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 central nervous system malformation syndrome with characteristics of holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).	Outdated component (foundation metadata concept)
A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.	Outdated component (foundation metadata concept)
A cerebral cortical malformation with features of unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.	Outdated component (foundation metadata concept)
A cerebral malformation with characteristics of symmetric, bilateral pachygyria with normal head circumference and without polymicrogyria. Clinical manifestations include developmental delay, moderate intellectual disability, normal or slightly decreased muscle tone and deep-tendon reflexes, telecanthus or hypertelorism.	Outdated component (foundation metadata concept)
A cerebral malformation with epilepsy with predominant characteristics of posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Caused by heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.	Outdated component (foundation metadata concept)
A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea.	Outdated component (foundation metadata concept)
A cessation of respiratory airflow that may affect infants of 1 to 23 months old, caused by neurological impairment of the respiratory rhythm or obstruction of airflow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnoea.	Outdated component (foundation metadata concept)
A chart evaluation performed by a physician	Grammatical description error (foundation metadata concept)
A chart-related administrative procedure that checks a chart for completion and accuracy and conformance to chart policy	Erroneous component (foundation metadata concept)
A chromosomal anomaly characterised by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.	Outdated component (foundation metadata concept)
A chromosomal anomaly characterised by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behaviour. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.	Outdated component (foundation metadata concept)
A chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-esophageal and urogenital anomalies.	Outdated component (foundation metadata concept)
A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation of the hip, long slender fingers and slender lower limbs, and positional deformities of the hands/feet have also been reported. In all patients, global psychomotor developmental delay is noted from an early age. The recurrent 17q21.31 deletion encompasses at least six genes: C17orf69, CRHR1, IMP5, MAPT, STH and KIAA1267.	Outdated component (foundation metadata concept)
A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Outdated component (foundation metadata concept)
A chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 resulting in characteristics of facial dysmorphism, pre and postnatal growth retardation, cardiac and genital anomalies and developmental delay. Prevalence is unknown but around 40 cases have been described in the literature so far. Genital abnormalities have been mostly reported in males, psychomotor retardation (generally described as mild) was present in all reported cases. Distal monosomy 10q results from a subterminal 10q deletion with breakpoints in the 10q25 or 10q26 band leading to partial monosomy for the genes located in this area. Most of the reported cases involved de novo terminal deletions resulting from abnormal non-allelic homolog recombination during meiosis.	Outdated component (foundation metadata concept)
A chromosomal anomaly of chromosome 13 with characteristics of a widely variable phenotype ranging from mild to severe. Principle manifestations include intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. up-slanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies and genital abnormalities.	Outdated component (foundation metadata concept)
A chromosomal anomaly that causes a congenital malformation disorder with common features that includes cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. The disease has a variable clinical phenotype that ranges from mild to severe. The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. The deletion arises de novo in 90% of the cases.	Grammatical description error (foundation metadata concept)
A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately 593 kb at chromosomal coordinates 29.5-30.1 Mb comprising 24 genes. The relationship between genotype and clinical phenotype remains elusive.	Outdated component (foundation metadata concept)
A chromosomal anomaly with characteristics of severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.	Outdated component (foundation metadata concept)
A chromosomal disorder with distinctive clinical findings characterised by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behaviour. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	Outdated component (foundation metadata concept)
A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13.	Outdated component (foundation metadata concept)
A chromosome microdeletion syndrome with characteristics of neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.	Outdated component (foundation metadata concept)
A chronic multisystem granulomatous inflammatory disease with manifestation of single or multiple soft plaques on various organs of the body. Can occur in all ages, with a mean age at diagnosis of 50 years old and a female predominance. Cases in children are rare. It is most common in immunodeficient patients with a history of diabetes, transplantation, lymphoma, steroid therapy or alcoholism. Seems to be due to an impaired response to bacterial infection.	Outdated component (foundation metadata concept)
A chronic neurodegenerative disorder with features of spastic paraparesis (beginning at about 10 years of age) and hearing deficits. It has been described in affecting at least six male members spanning three generations of a large family. Some relatives presented with tremor, cataracts, sensory deficits, short stature, hypogonadism, elevated cerebrospinal fluid protein, and/or absent or prolonged somatosensory evoked potentials.	Outdated component (foundation metadata concept)
A chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia.	Outdated component (foundation metadata concept)
A chronic type of intestinal failure with characteristics of a nonfunctioning small bowel that may be reversible or irreversible. The body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract despite being metabolically stable. This necessitates long-term parenteral feeding.	Outdated component (foundation metadata concept)
A clinical entity that can present as variable anomalies of the caudal pole. It has been described in four siblings and their father's half-sister. The first sibling had aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Two of the siblings showed full sirenomelia, one with a complex congenital heart defect. The fourth case had an imperforate anus and an excessively long umbilical cord. The half-sister had an imperforate anus, rectovaginal fistula and genitourinary anomalies. The syndrome appears to be expressed as a dominant trait with reduced penetrance and variable expressivity.	Outdated component (foundation metadata concept)
A clinically heterogeneous progressive condition with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	Outdated component (foundation metadata concept)
A clinically oriented interview of a patient or someone familiar with the patient	Grammatical description error (foundation metadata concept)
A colorless gas with a characteristic foul odor, used as a fuel and shipped as a liquefied compressed gas	Concept non-current
A complex form of hereditary spastic paraplegia characterised by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraoesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.	Outdated component (foundation metadata concept)
A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. The phenotype has been mapped to a locus on chromosome 1p31.1-p21.1.	Outdated component (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.	Outdated component (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of delay in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.	Outdated component (foundation metadata concept)
A complex form of hereditary spastic paraplegia with characteristics of spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992.	Outdated component (foundation metadata concept)
A complex form of hereditary spastic paraplegia, with onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. The SPG36 phenotype has been mapped to a locus on chromosome 12q23-q24.	Outdated component (foundation metadata concept)
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. To date, only six families have been reported. Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with this disease. Usually occurs in an autosomal recessive manner however, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.	Outdated component (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of delayed motor development, spasticity and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.	Outdated component (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of mild to severe lower limbs spasticity, hyperreflexia, extensor plantar responses, pes cavus and significant wasting and weakness of the small hand muscles. Impaired vibration sensation, temporal lobe epilepsy and cognitive dysfunction were also reported.	Outdated component (foundation metadata concept)
A complex hereditary spastic paraplegia with characteristics of progressive spastic paraplegia, upper and lower limb muscle atrophy, hyperreflexia, extensor plantar responses, pes cavus and occasionally impaired vibration sense.	Outdated component (foundation metadata concept)
A complex type of hereditary spastic paraplegia with onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (oromandibular dyskinesia, rigidity) and cerebellar (dysdiadochokinesia and incoordination) signs. Subtle abnormalities (for example developmental delay) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.	Outdated component (foundation metadata concept)
A condition characterized by the herniation of the bladder into the vagina due to tearing of the tough fibrous wall between a woman's bladder and her vagina (the pubovesical fascia).	Erroneous component (foundation metadata concept)
A congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral cryptophthalmia have been described. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A congenital abnormality of the pituitary that is responsible for pituitary deficiency with usual manifestation of a triad of very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary and hypoplasia or aplasia of the anterior pituitary. In the majority of cases no genetic cause is found, however, the presence of familial forms and the association with microphallus and congenital abnormalities, particularly of the eyes, suggest an antenatal origin.	Outdated component (foundation metadata concept)
A congenital anomaly of the kidney and urinary tract in which one or both kidneys are large, distended by multiple cysts, and non-functional. Global prevalence is not known, but the unilateral form is the most frequent. The disorder frequently presents antenatally at routine ultrasound scan. Bilateral disease is considered a lethal entity and most pregnancies are terminated. The disorder results from disrupted nephrogenesis but the exact pathogenic mechanism is still unknown. Mutations in the HNF1B gene (17q12) are strongly associated with the development of this disease. Most cases are sporadic.	Outdated component (foundation metadata concept)
A congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. Prevalence is unknown. It manifests at radiography as posteromedial bowing with cortical thickening along the concavity of the curvature and, in some cases, diaphyseal broadening. Bowing of the long bones can be detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, whose recognition is important for differentiating those that will resolve spontaneously from those that require surgery or other treatment.	Outdated component (foundation metadata concept)
A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterised by microcytosis, hypochromia, normal haemoglobin level or mild anaemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	Outdated component (foundation metadata concept)
A congenital contiguous gene deletion syndrome, which is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin level or mild anemia, associated with developmental abnormalities. Caused by large deletions on chromosome band 16p13.3 which remove the alpha-globin genes (HBA1 and HBA2), and many other flanking genes. The gene(s) responsible for intellectual deficiency and other developmental abnormalities has not been clearly identified. All cases are due to de novo deletions or segregation for parental translocations inherited in an unbalanced manner. The prognosis is highly variable, depending on the degree of intellectual deficiency.	Outdated component (foundation metadata concept)
A congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.	Outdated component (foundation metadata concept)
A congenital disorder characterised by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Aetiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A congenital disorder characterized by nonprogressive cerebellar ataxia, associated with a moderate to profound intellectual disability and delayed ambulation. Gait can be either bipedal or quadrupedal. Additional features include hypotonia, lack of coordination, delayed motor development, seizures, dysarthria, strabismus, short stature, and pes planus. Etiological subtypes have been reported and include type 1 (CAMRQ1), 2 (CAMRQ2), 3 (CAMRQ3) and 4 (CAMRQ4) which are attributed to mutations in VLDLR (9p24), CA8 (8q12.1), WDR81 (17p13.3) and ATP8A2 (13q12) genes, respectively. Transmission is autosomal recessive.	Outdated component (foundation metadata concept)
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Outdated component (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.	Outdated component (foundation metadata concept)
A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.	Outdated component (foundation metadata concept)
A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified.	Outdated component (foundation metadata concept)
A congenital enteropathy presenting with early-onset severe intractable diarrhoea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhoea within the first days after birth and the diarrhoea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or oesophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified.	Outdated component (foundation metadata concept)
A congenital heart malformation characterised by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnoea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication.	Outdated component (foundation metadata concept)
A congenital heart malformation characterized by an atrial septal defect, clefts of mitral and occasionally tricuspid valves, two separate atrioventricular valve annuli and an intact ventricular septum. The typical symptoms are impaired exercise capacity and exertional dyspnea. The age of onset is variable, but clinical features may not appear until later in life. In contrast to the complete form, patients with partial atrioventricular canal have two separate AV valves, (resulting from fusion of the superior and inferior bridging leaflets), and no large intraventricular communication.	Outdated component (foundation metadata concept)
A congenital hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 with characteristics of Dejerine-Sottas syndrome-like phenotype (including hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical Charcot-Marie-Tooth phenotype, for example distal muscle weakness and atrophy, sensory loss, and foot deformity.	Outdated component (foundation metadata concept)
A congenital malformation characterised by an abnormal posterior sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the oesophagus. Five types of laryngo-tracheo-oesophageal cleft have been described based on the downward extension of the cleft. The disorder is often associated with other congenital abnormalities. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-oesophageal septum. The disorder appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.	Outdated component (foundation metadata concept)
A congenital malformation characterized by an abnormal posterior sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft. The disorder is often associated with other congenital abnormalities. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The disorder appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported.	Outdated component (foundation metadata concept)
A congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Fewer than 30 cases have been described, the majority of cases occurred in related families. The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemi-vertebral anomalies) have occasionally been reported. Mild facial dysmorphism has been described in isolated cases. The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.	Outdated component (foundation metadata concept)
A congenital malformation with apparent shortness (or absence) of the middle phalanges of all digits and occasional fusion with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Tendency to be of short stature in adulthood. Inherited as an autosomal dominant trait.	Outdated component (foundation metadata concept)
A congenital malformation with characteristics of shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and sometimes of the little finger. Only a few cases have been reported in the literature. Affected individuals have a triangular shaped middle phalanx of the index fingers and in severely affected cases the index finger is curved radially. Can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11.	Outdated component (foundation metadata concept)
A congenital non-syndromic limb malformation with the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.	Outdated component (foundation metadata concept)
A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.	Outdated component (foundation metadata concept)
A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.	Outdated component (foundation metadata concept)
A construction of a pouch, achieved by resecting the anterior wall of a cyst or other enclosed cavity and suturing the cut edges of the remaining wall to adjacent edges of skin	Erroneous component (foundation metadata concept)
A construction of an abnormal passage between a cavity or hollow organ and the surface of the body	Nonconformance to editorial policy component (foundation metadata concept)
A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.	Outdated component (foundation metadata concept)
A contiguous gene syndrome with characteristics of the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. It has been described in 8 patients to date. Common dysmorphic features include micrognathia, microcephaly, preauricular pits, high-arched palate and abnormal ears. All patients except one have intellectual deficit. The syndrome is caused by deletions of the proximal part of the short arm of chromosome 8 (8p11.1 to 8p21). The deletions can be cytogenetically detected and their size is variable. The loss of the ankyrin-1 gene (ANK1) results in congenital spherocytosis.	Outdated component (foundation metadata concept)
A cranial malformation with characteristics of facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. An autosomal recessive mode of inheritance has been suggested.	Outdated component (foundation metadata concept)
A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant.	Outdated component (foundation metadata concept)
A decrease in lower leg circumference due to recurrent ulceration and fat necrosis causing loss of subcutaneous tissue in a patient with venous stasis disease	Nonconformance to editorial policy component (foundation metadata concept)
A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.	Outdated component (foundation metadata concept)
A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12.	Outdated component (foundation metadata concept)
A dermatosis with pruritic sterile papules and pustules that come together to form plaques with papulovesicular borders, and a tendency toward central clearing and hyperpigmentation, with spontaneous exacerbations and remissions. Histologically variable with folliculitis of follicle sheath and perifollicular dermis and spongiosis of follicular epithelium, sometimes with peripheral leukocytosis and or eosinophilia and or eosinophilic abscesses.	Outdated component (foundation metadata concept)
A destruction of tissue by burning or searing with a thermal instrument, an electric current, or a caustic substance	Grammatical description error (foundation metadata concept)
A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.	Outdated component (foundation metadata concept)
A developmental anomaly syndrome with characteristics of coloboma of the iris and optic nerve, facial dysmorphism (high forehead, micro retrognathia, low-set ears) intellectual deficit, agenesis of the corpus callosum, sensorineural hearing loss, skeletal anomalies and short stature. Caused by mutation in the IGBP1 gene.	Outdated component (foundation metadata concept)
A developmental anomaly with characteristics as birth of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.	Outdated component (foundation metadata concept)
A developmental anomaly with characteristics of brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). This anomaly has been described in a mother and her son and there have been no further descriptions in the literature since 1986.	Outdated component (foundation metadata concept)
A developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the internal carotid artery, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients.	Outdated component (foundation metadata concept)
A developmental defect with manifestation of variable intramembranous ossification defects of the parietal bones, which is asymptomatic, symptomatic or associated with other pathologies. A congenital disorder caused by insufficient ossification around the parietal notch. In most cases this results from heterozygous loss of function mutations in human homeobox genes, MSX2 (5q35.2) and ALX4 (11p11.2), which encode transcription factors involved in skeletal development. Transmission is autosomal dominant with high but incomplete penetrance.	Outdated component (foundation metadata concept)
A developmental disorder characterised by keratotic papules of skin of hands and soles with disorganisation of dermal elastic fibres that does not appear to be due to trauma or sunlight.	Outdated component (foundation metadata concept)
A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight	Erroneous component (foundation metadata concept)
A developmental disorder characterized by keratotic papules of skin of hands and soles with disorganization of dermal elastic fibers that does not appear to be due to trauma or sunlight.	Outdated component (foundation metadata concept)
A developmental disorder of the eye with manifestation of unilateral or bilateral microphthalmia associated with ocular coloboma.	Outdated component (foundation metadata concept)
A diet composed of foods and/or fluids which are in a liquid state. (Source: Academy of Nutrition and Dietetics Nutrition Informatics Committee 2013)	Erroneous component (foundation metadata concept)
A diffuse palmoplantar keratoderma with manifestation of honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness.Follows an autosomal dominant mode of transmission.	Outdated component (foundation metadata concept)
A digestive tract route that begins in the intestine (from the duodenum through the colon).	Concept non-current
A disease associated with faster than normal growth before and after birth, intellectual disability, characteristic facial features including round face, thick horizontal eyebrows, narrowed palpebral fissures. Macrocephaly may also be present along with features of autism spectrum disorder. Other associated signs include kyphoscoliosis, heart defects, pes planus, hypotonia, hypermobile joints depression, anxiety, obsessive-compulsive disorder. Caused by mutation in the DNMT3A gene, which provides instructions for making the enzyme DNA methyltransferase 3 alpha. This condition is inherited in an autosomal dominant pattern, however some cases result from new mutations in the gene and occur in people with no history of the disorder in their family.	Outdated component (foundation metadata concept)
A disorder belonging to the group of oromandibular-limb hypogenesis syndromes with the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. The syndrome is very rare with less than 30 cases reported in the literature so far. Associated anomalies include cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (oligodactyly, syndactyly and polydactyly as well as more severe limb malformations). The syndrome appears to be sporadic.	Outdated component (foundation metadata concept)
A disorder characterised by recurrent seizures.	Outdated component (foundation metadata concept)
A disorder characterized by recurrent seizures	Erroneous component (foundation metadata concept)
A disorder characterized by recurrent seizures.	Outdated component (foundation metadata concept)
A disorder of lipid absorption and transport characterised by steatorrhoea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	Outdated component (foundation metadata concept)
A disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990.	Outdated component (foundation metadata concept)
A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	Outdated component (foundation metadata concept)
A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex.	Outdated component (foundation metadata concept)
A disorder of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).	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)