900000000000490003: Description inactivation indicator attribute value reference set (foundation metadata concept)

SNOMED CT Concept\SNOMED CT Model Component\Foundation metadata concept (foundation metadata concept)\Reference set\Attribute value type\Description inactivation indicator reference set

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT model component module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Description inactivation indicator reference set	Is a	Attribute value type	true	Inferred relationship	Some

Members	valueId
A generalized onset seizure type with a myoclonic jerk leading to an atonic motor component. This type was previously called myoclonic–astatic. A seizure originating at some point within, and rapidly engaging, bilaterally distributed networks.	Nonconformance to editorial policy component (foundation metadata concept)
A genetic disorder with characteristics of formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.	Outdated component (foundation metadata concept)
A genetic disorder with characteristics of intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. The syndrome is caused by either a point mutation in the euchromatic histone-lysine N-methyltransferase 1 (EHMT1) gene (rarely) or by a microdeletion in the chromosome region 9q34.3 (seen in more than 85% of cases), leading to the loss of the entire gene. This gene encodes an enzyme that modifies histone function and is essential for normal development. Larger deletions (greater than 1mb) are associated with more severe symptoms.	Outdated component (foundation metadata concept)
A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait.	Outdated component (foundation metadata concept)
A genetic epilepsy of childhood with characteristics of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Seizures can regress in adulthood but most patients have ongoing seizures that are refractory to medication. Around 85% of cases are due to a mutation or deletion in the SCN1A gene (2q24.3), encoding a voltage-gated sodium channel essential for the excitability of neurons. In families with a known SCN1A mutation, inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A genetic epileptic syndrome characterised by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalised. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	Outdated component (foundation metadata concept)
A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life with clusters (8-10 a day) of repeated and brief episodes (2-5 minutes) over a few days. They are usually focal but can sometimes become generalized. A family history of the same epilepsy is a constant finding. The disease is genetically heterogeneous, in the majority of cases, mutations in the proline-rich transmembrane protein 2 (PRRT2) gene located at 16p11.2 have been found. Mutations have also been found in the SCN2A gene (2q24.3) encoding the brain sodium channel NaV1.2 and rarely in the KCNQ2 (20q13.33) and KCNQ3 (8q24) genes both encoding potassium channels. Additionally, three other chromosomal loci have been identified that are mapped to chromosome 19q, 16p and 1p. Transmitted as an autosomal dominant trait with incomplete penetrance.	Outdated component (foundation metadata concept)
A genetic macular dystrophy with characteristics of loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Onset is in childhood and sometimes in later teenage years (5-13 years). Affected individuals have normal vision at birth. The disease then progresses through distinct stages and has characteristics of atrophy of the retinal pigment epithelium (RPE) affecting photoreceptors with impaired central visual function. In most cases, the disease is caused by mutations in BEST1 (11q12), encoding for bestrophin-1, a chloride channel expressed in RPE. A defect in this protein leads to accumulation of lipofuscin secondary to abnormal ion exchange. Inherited in an autosomal dominant manner with complete penetrance.	Outdated component (foundation metadata concept)
A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	Outdated component (foundation metadata concept)
A genetic non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterised by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discolouration or haemangiomas, are frequently associated.	Outdated component (foundation metadata concept)
A genetic non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.	Outdated component (foundation metadata concept)
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial disease with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. The disease presents in early childhood. BCG is the most common infection encountered, usually after receiving the vaccination. Non-typhoidal Salmonella infections are also seen in half of all cases. Caused by homozygous mutations in the IL12B gene on chromosome 5q31.1-q33.1 which encodes for the IL-12p40 subunit. There are 9 different IL12B mutant alleles identified, including 2 small insertions, 3 small deletions, 2 splice site mutations, 1 large deletion and 1 nonsense mutation.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of a complete deficiency in interferon gamma receptor 1(IFN-gammaR1), leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-Guérin and other environmental mycobacteria. Infection is disseminated and can involve soft tissue, bone marrow, lungs, skin, bones and lymph nodes. Manifestations include fever, weight loss, hepatosplenomegaly, lymphadenopathies and lepromatous-like lesions. Caused by complete IFN-gammaR1 deficiency due to mutations in the IFNGR1 gene on chromosome 6q23-q24. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibility to mycobacterial diseases with characteristics of mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections. The prevalence is unknown. Over 140 cases have been reported in the world. Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A genetic variant of Mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.	Erroneous component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. The prevalence is unknown. First infections occur after the age of 3. Clinical penetrance is incomplete and some patients are asymptomatic while others have very mild clinical manifestations. Caused by heterozygous mutations in the STAT1 gene on chromosome 2q32.2-q32.3 encoding the signal transducer and activator of transcription 1. Two distinct forms have been described: one affecting phosphorylation and the other impairing DNA-binding activity. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of a partial deficiency leading to impaired IFN-gamma immunity and consequently recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by heterozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. Microdeletion 818del4 is by far the most common mutation and it corresponds to the first documented hotspot for a microdeletion in the human genome. It leads to the expression of IFN-gamma receptor on the cell surface with no signal transduction and therefore patients only show a partial response to IFN-gamma. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial disease with characteristics of partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and consequently to recurrent moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Caused by a heterozygous mutation in the IFNGR2 gene on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain 2. The 186delC mutation corresponds to the first mutation conferring an AD partial IFN-gammaR2 deficiency.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. These infections are recurrent but less severe than those seen in MSMD due to complete IFN-gammaR1 and IFN-gammaR2 deficiencies. Caused by homozygous mutations in the IFNGR1 gene on chromosome 6q23-q24 that encodes the IFN-gamma receptor ligand binding chain. The most common mutation is, by far, I87T. This mutation leads to the expression of IFN-gamma receptors on the cell surface with no signal transduction capacity and they therefore only show a partial response to IFN-gamma. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases (MSMD) with characteristics of a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. Only one patient has been reported with this variant to date. Caused by a homozygous mutation (R114C) in IFNGR2 on chromosome 21q22.1-22.2 that encodes the IFN-gamma receptor ligand binding chain. This mutation leads to a residual cellular response to IFN-gamma in terms of IL12p40 production. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases characterised by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leucocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A genetic variant of mendelian susceptibly to mycobacterial disease with characteristics of a complete deficiency in interferon gamma receptor 2, leading to an undetectable response to interferon gamma and consequently to severe and often fatal infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria. The prevalence is unknown. Only ten children have been identified to date. This disease is caused by mutations in IFNGR2 on chromosome 21q22.1-22.2 which encodes the IFN-gamma receptor signal transducing chain, essential for IFN-gamma mediated immunity. Two clinically indistinguishable forms have been reportedly defined by the presence or absence of protein expression on the cell surface.	Outdated component (foundation metadata concept)
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterised by fasting hypoglycaemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycaemia (without hepatomegaly) associated with hyperketonaemia but without hyperalaninaemia or hyperlactacidaemia. After meals, major hyperglycaemia associated with lactate and alanine increase and hyperlipidaemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease characterized by fasting hypoglycemia. It is an extremely rare disease; about 20 cases have been reported in the literature so far. The disease appears in infancy or in early childhood. Patients present with morning fatigue and fasting hypoglycemia (without hepatomegaly) associated with hyperketonemia but without hyperalaninemia or hyperlactacidemia. After meals, major hyperglycemia associated with lactate and alanine increase and hyperlipidemia is observed. Caused by mutations in the GYS2 gene (12p12.2). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A genodermatosis with characteristics of the presence of multiple hamartomas of the hair follicle. It has been described in one family so far.	Concept non-current
A glomerular disease with characteristics of severe renal failure and nephrotic syndrome at birth, which rapidly improves in the first weeks of life. The disorder has been described in 15 infants from 5 families originating from Portugal, the Netherlands, Italy, Germany and Morocco. The disease is a congenital disorder where infants present at birth with nephrotic syndrome, acute renal failure (oligoanuria and proteinuria), or both. Respiratory distress and hypertension are also observed during the first days of life. Some degree of dysmorphism may be observed in some cases. Mothers do not show any renal manifestations. Caused by the transplacental transfer of nephritogenic anti-NEP antibodies (IgG1, IgG4 subtypes) from mothers with truncating mutations of the MME gene (3q25.2; coding for NEP), resulting in a functional knockout of MME.	Outdated component (foundation metadata concept)
A group of anomalies that may result from maternal infection and subsequent fetal infection with the Herpes virus. The virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. Pregnancy complications including preterm delivery, intrauterine growth retardation, and neonatal infection have been attributed to the Herpes virus. Exposure of the fetus to Herpes virus at the time of delivery carries a serious risk of infection for the newborn.	Outdated component (foundation metadata concept)
A group of mitochondrial DNA maintenance syndrome diseases with characteristics of predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophthalmoplegia, sensorineural hearing loss, seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.	Outdated component (foundation metadata concept)
A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalised distribution.	Outdated component (foundation metadata concept)
A group of rare autosomal recessive forms of ichthyosis with clinical characteristics of superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. Presents with either an acral or a generalized distribution.	Outdated component (foundation metadata concept)
A group of rare central nervous system malformations with characteristics of varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.	Outdated component (foundation metadata concept)
A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs.	Outdated component (foundation metadata concept)
A group of rare genetic neurodegenerative diseases with characteristics of infancy to childhood onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed.	Outdated component (foundation metadata concept)
A group of symptoms which may be observed in the fetus or newborn when the mother has taken indomethacin, a nonsteroidal anti-inflammatory drug during pregnancy. The drug crosses the human placenta readily throughout gestation, but its effects on the embryo/fetus vary according to the stage of pregnancy.	Outdated component (foundation metadata concept)
A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 is variable. Pigmentation present in the skin, hair and eyes can range from little or none to pigmentation only to the peripheries. Findings of nystagmus, photophobia and reduced visual acuity are often present. The disease is caused by a mutation in the TYR gene located on chromosome 11q14.3 encoding tyrosinase. Mutations in OCA1A and OCA1B lead to a total or partial loss of the catalytic activity of tyrosinase while those in OCA1-MP and OCA1-TS lead to minimal activity or temperature sensitive tyrosinase proteins. The different forms of OCA1 are all transmitted autosomal recessively.	Outdated component (foundation metadata concept)
A haematological neoplasm characterised by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anaemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.	Outdated component (foundation metadata concept)
A hand-foot malformation with characteristics of triphalangeal thumbs and pre and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. It has been described in some large pedigrees. Clinical presentation is variable within families, ranging from mild to severe. Malformations of the feet are usually less severe than those of the hands. Caused by duplication encompassing the limb-specific regulatory element (ZRS) of sonic hedgehog SHH, which lies in intron 5 of the limb region 1 homolog gene, LMBR1 (7q36). This syndrome is transmitted in an autosomal dominant manner with complete penetrance and variable expression.	Outdated component (foundation metadata concept)
A hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Outdated component (foundation metadata concept)
A hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features of myeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages.	Outdated component (foundation metadata concept)
A hereditary cancer syndrome characterised by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolises the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Disease onset can occur at any age, but is more common in young adults and elderly patients. Multiple or single benign cutaneous leiomyomas are common. Uterine leiomyomas (present in 77% of women with HLRCC), also known as fibroids, usually appear around the age of 30. Caused by a mutation in the FH gene (1q42.1) encoding the enzyme fumarate hydratase (FH) that metabolizes the fumarate produced during the purine nucleotide cycle and arginine synthesis in the cytoplasm. Mode of inheritance is autosomal dominant.	Outdated component (foundation metadata concept)
A hereditary demyelinating motor and sensory neuropathy with characteristics of slowed nerve conduction velocities in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.	Outdated component (foundation metadata concept)
A hereditary disorder associated with impaired DNA double-strand break repair mechanisms with characteristics of microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency. Caused by mutations in the LIG4 gene (13q22-q34). The resulting defect of DNA ligase IV, a component of the classical non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A hereditary neurological disorder with characteristics of excessive startle responses. The disease manifests shortly after birth with violent jerking to noise and touch, and massive and sustained stiffening of the trunk and limbs, clenching fists, and attacks of a high frequency trembling. Motor milestones are often mildly delayed, but intellectual development is usually normal. Mutations in the GLRA1 gene (5q32) are found in about 30% of patients. These mutations are transmitted as an autosomal dominant or recessive trait. The GLRA1 gene encodes the alpha1 subunit of the juvenile neuronal receptor for the inhibitory neurotransmitter, glycine. Mutations of this subunit cause a variety of dysfunctions of the neuronal chloride (Cl-) channel. Mutations in the GLRB, GPHN and SLC6A5 genes (4q31.3, 14q24 and 11p15.2-p15.1) have also been observed.	Outdated component (foundation metadata concept)
A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner.	Outdated component (foundation metadata concept)
A hereditary renal cancer syndrome defined as development of hereditary clear cell renal cell carcinoma (ccRCC) in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other neoplasm predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbe syndrome.	Outdated component (foundation metadata concept)
A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with edema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant.	Outdated component (foundation metadata concept)
A heterogeneous entity. Its prevalence in the general population is unknown. Nephrotic syndrome has manifestations of marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. Familial forms are in most cases related to podocyte protein structural anomalies. Other forms result from a totally different mechanism, which has not yet been elucidated. One of the proposed hypotheses suggests that cells from the immune system could produce one or several circulating factors, which would increase the glomerular permeability to proteins. In some cases, immunosuppressive drugs, in particular cyclosporin, can prove beneficial. However, the progression to end-stage renal failure is frequent. In this case, there is a risk of nephrotic syndrome recurrence after kidney transplant.	Outdated component (foundation metadata concept)
A heterogeneous group disorders characterised by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localised to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	Outdated component (foundation metadata concept)
A heterogeneous group disorders characterized by short, brittle hair with low-sulfur content (due to an abnormal synthesis of the sulfur containing keratins). The abnormalities are usually obvious at birth, with variable clinical expression. Trichothiodystrophy is an autosomal recessive disorder. In the photosensitive group 95% have mutations within the XPD (ERCC2) gene (localized to 19q13.2-q13.3). The remaining cases are caused by mutations within the XPB gene. So far, no gene has been isolated for the nonphotosensitive group. The variants of Trichothiodystrophy depending on their different associations are: BIDS syndrome, IBIDS syndrome, PIBIDS syndrome, Sabinas syndrome, SIBIDS syndrome, Itin syndrome and Pollitt syndrome.	Outdated component (foundation metadata concept)
A heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. Three types of PFIC have been identified and are related to mutations in hepatocellular transport system genes involved in bile formation. Main clinical manifestations include cholestasis, pruritus and jaundice.	Outdated component (foundation metadata concept)
A highly malignant neoplasm that can occur on the lip, oral cavity, nasal cavity, pharynx, larynx and paranasal sinuses and that accounts for 90% of all head and neck cancers, occurring most frequently in adults between the ages of 40-60. Presents with a variety of manifestations, depending on the primary site, such as voice hoarseness, dysphagia, ulceration of oral mucosa, hearing loss, epistaxis, nasal obstruction and enlargement of a cervical lymph node. Often associated with extensive invasion into surrounding tissues and a rapid metastasis to distant organs.	Outdated component (foundation metadata concept)
A histological subtype of C3 glomerulopathy with characteristics of C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilledema and diplopia.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, associated with extremely low survival rates and a high risk of metastatic disease and manifesting with symptoms of increased intracranial pressure such as vomiting, headache, listlessness, papilloedema and diplopia.	Outdated component (foundation metadata concept)
A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.	Outdated component (foundation metadata concept)
A keratinisation disorder characterised by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.	Outdated component (foundation metadata concept)
A keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenar, hypothenar and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Caused by heterozygous mutation in the gene encoding connexin-26 (GJB2; 121011) on chromosome 13q12.	Outdated component (foundation metadata concept)
A keratotic cutaneous polyp containing abundant connective tissue	Nonconformance to editorial policy component (foundation metadata concept)
A kyphotic deformity of the spine that develops in adolescence. The spinal deformity includes irregularities of the vertebral endplates, the presence of Schmorl's nodes, disc-space narrowing and vertebral wedging. The disease is diagnosed using lateral radiographs of the spine. The thoracic spine is most often affected, but the lumbar spine may also be involved. Analysis of the mode of inheritance in a sample of 90 pedigrees derived from the Siberian population supported an autosomal dominant mode of inheritance with complete penetrance in boys and incomplete penetrance in girls.	Outdated component (foundation metadata concept)
A large or giant congenital melanocytic naevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes and presenting with an elevated risk of malignant transformation. An LCMN is a darkly coloured, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite naevi that develop at birth or during early childhood (tardive satellites). Patients with LCMN also present an elevated risk of malignant paediatric melanoma, particularly intracranial, and other neuroectodermal tumours of varying severity. LCMN is a neurocristopathy (a disorder of the development of the embryonic neural crest) but its aetiology is unknown. Familial cases have been observed, but the vast majority of LCMN cases are sporadic.	Outdated component (foundation metadata concept)
A large or giant congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes and presenting with an elevated risk of malignant transformation. An LCMN is a darkly colored, circumscribed area of the skin sometimes covered with dense hair or proliferative nodules, and/or accompanied by multiple small satellite nevi that develop at birth or during early childhood (tardive satellites). Patients with LCMN also present an elevated risk of malignant pediatric melanoma, particularly intracranial, and other neuroectodermal tumors of varying severity. LCMN is a neurocristopathy (a disorder of the development of the embryonic neural crest) but its etiology is unknown. Familial cases have been observed, but the vast majority of LCMN cases are sporadic.	Outdated component (foundation metadata concept)
A lethal bone dysplasia with characteristics of low birth weight, rhizomelic dwarfism, bent femora and short chest producing asphyxia. The disease has been described in three siblings from healthy, non-consanguineous parents of Finnish origin and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. There has been no further description of this disease in the literature since 1988.	Outdated component (foundation metadata concept)
A lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits and postmortem confirmation of nephropathy (renal tubular necrosis). The combination has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.	Outdated component (foundation metadata concept)
A lethal malformation syndrome reported in 2 brothers of first-cousin parents with characteristics of hydrocephalus, cardiac malformation, dense bones and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984.	Outdated component (foundation metadata concept)
A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralisation. First described in 1989, less than 30 cases have been reported so far. Aetiology is not well known, but some histological findings report growth plate disorganisation and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.	Outdated component (foundation metadata concept)
A lethal skeletal dysplasia with characteristics of cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. First described in 1989, less than 30 cases have been reported so far. Etiology is not well known, but some histological findings report growth plate disorganization and adjacent diaphyseal ossification. There is evidence that the disease is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.	Outdated component (foundation metadata concept)
A life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet disease, with the association of multiple pulmonary artery aneurysms and peripheral venous thrombosis. Prevalence is unknown but fewer than 30 cases have been reported in the literature since its first description in 1959 by Hughes and Stovin. Patients (mostly men aged 12-40 years) generally present with the nonspecific signs of pulmonary artery aneurysms, following a history of peripheral venous thrombosis. Other associated signs may include fever and intracranial hypertension. Aneurysms can occur anywhere in the systemic circulation. Recurrent phlebitis also commonly involves the large vessels, resulting in thrombus formation. In general, there is a predisposition for thrombus formation affecting the peripheral veins. It is assumed the disease is a form of vasculitis following a similar mechanism of pathogenesis to that thought to be involved in Behcet disease.	Outdated component (foundation metadata concept)
A life-threatening multi organ disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. There is evidence this disease is caused by homozygous mutation in the ITGA3 gene on chromosome 17q21.	Outdated component (foundation metadata concept)
A life-threatening rapidly progressive thrombotic disorder affecting mainly neonates and children that has characteristics of purpuric skin lesions and disseminated intravascular coagulation. The disease may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of acquired purpura fulminans that are classified according to triggering mechanisms: acute infectious (the most common form) and idiopathic.	Outdated component (foundation metadata concept)
A life-threatening syndrome with manifestation of progressive and painful skin ulcerations associated with calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation.	Outdated component (foundation metadata concept)
A ligation where the surgical suture serves as a ligature	Grammatical description error (foundation metadata concept)
A limb girdle muscular dystrophy caused by caveolin-3 deficiency with characteristics of weakness in limb-girdle muscles, calf muscle hypertrophy and lack of respiratory and cardiac involvement.	Concept non-current
A limb girdle muscular dystrophy caused by myotilin deficiency with characteristics of limb-girdle weakness in combination with dysarthria.	Outdated component (foundation metadata concept)
A limb girdle muscular dystrophy characterised by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.	Outdated component (foundation metadata concept)
A limb girdle muscular dystrophy characterized by symmetrical and selective atrophy and weakness of proximal limb and girdle muscles without cardiac or facial disturbances.	Outdated component (foundation metadata concept)
A limb girdle muscular dystrophy with characteristics of muscular weakness, primarily affecting the pelvic and shoulder girdles with no bulbar weakness or dysarthria.	Outdated component (foundation metadata concept)
A limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been described, unilateral and bilateral. There have been no further descriptions in the literature since 1962.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) dissolved in a concentrated solution of sugar.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) in a mixture of ether and ethanol.	Outdated component (foundation metadata concept)
A liquid dose form consisting of active substance(s) in an aqueous solution.	Outdated component (foundation metadata concept)
A liquid dose form consisting of an oil-in-water emulsion.	Outdated component (foundation metadata concept)
A lymphatic system malformation with characteristics of swelling of an extremity that can be associated with other lymphatic effusions, due to an underlying developmental anomaly of the lymphatic system (abnormal lymphangiogenesis). It can be hereditary or not and be congenital or late onset.	Outdated component (foundation metadata concept)
A lysosomal storage disease belonging to the group of sphingolipidoses. It is very rare with less than 10 cases reported in the literature so far. Clinically, it is a severe neurovisceral disease manifesting immediately after birth and following a rapidly progressive fatal course. The neurological signs and symptoms include hypotonia, massive myoclonic bursts, abnormal ocular movements and dystonia. Grand mal seizures and seizures triggered by tactile stimuli have been described. Patients also develop hepatosplenomegaly. Death usually occurs from respiratory failure following repeated pulmonary infections. The disease is caused by mutations in the PSAP gene (10q21) leading to absence or non-functionality of the prosaposin protein. The mode of inheritance is autosomal recessive.	Outdated component (foundation metadata concept)
A lysosomal storage disease with characteristics of coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Erroneous component (foundation metadata concept)
A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.	Grammatical description error (foundation metadata concept)
A lysosomal storage disease with clinical characteristics of psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration or strabismus. The disease is rare in the general population but is more prevalent among Ashkenazi Jews. First signs appear during the first year of life or later, but clinical progression is usually slow. In this disease phospholipids, gangliosides and mucopolysaccharides accumulate in lysosomal inclusions, some of which resemble membranous cytoplasmic bodies found in gangliosidoses. The condition seems to be caused by anomalies in the endocytosis of membrane components towards the lysosomes. The causative gene, MCOLN1, is located in the 19p13.3-p13.2 region and encodes mucolipin-1 (MLN1), a membrane protein from the transient receptor potential (TRP) channel family. The disease is transmitted as an autosomal recessive trait.	Outdated component (foundation metadata concept)
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	Outdated component (foundation metadata concept)
A malformation disorder characterised by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Concept non-current
A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Concept non-current
A malformation disorder with characteristics of complete or incomplete absence of nose, choanal atresia, microphthalmia, anophthalmia and cleft or high palate.	Outdated component (foundation metadata concept)
A malformation disorder with characteristics of sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.	Outdated component (foundation metadata concept)
A malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs. The syndrome has characteristics of mild facial asymmetry with unaffected neurocranium and eyeballs, along with esotropia, amblyopia and/or convergent strabismus and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.	Outdated component (foundation metadata concept)
A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe visual loss and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails, broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Inherited in a dominant manner.	Outdated component (foundation metadata concept)
A malformative syndrome due to the teratogenic effect of mycophenolate mofetil (MMF), an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. To date the majority of cases have been offspring of women who received a solid organ transplant. The newborn or fetus generally has external ear anomalies. Cleft lip-palate with micrognathia is frequently observed. Aberrant orofacial cleft has been observed in one case. Ocular anomalies, such as microphthalmia and iris or chorioretinal coloboma are also frequent. Distal limbs anomalies as well as congenital malformations of the heart, kidneys and/or central nervous system may also be observed.	Outdated component (foundation metadata concept)
A malignant tumor of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.	Outdated component (foundation metadata concept)
A malignant tumour of the prostate with an early onset. Is either asymptomatic or causes symptoms on micturition, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterised by familial antecedents.	Outdated component (foundation metadata concept)

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Reference Sets

Reference set descriptor

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Id	Description	Lang	Type	Status	Case?	Module
900000000001069012	Description inactivation indicator attribute value reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001070013	Description inactivation indicator reference set	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT model component module (core metadata concept)