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

concepto de SNOMED CT\componente del modelo de SNOMED CT\concepto de metadato fundacional (metadato fundacional)\conjunto de referencias\conjunto de referencias de tipo atributo-valor\conjunto de referencias atributo-valor de motivo de inactivación de descripciones

Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jan 2002. Module: módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es un[a]	conjunto de referencias de tipo atributo-valor	true	relación inferida	restricción existencial (metadato del núcleo)

Members	valueId
A rare non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhea, unilateral obstruction and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent.	componente obsoleto (metadato fundacional)
A rare non-syndromic uterovaginal malformation with characteristics of a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated.	componente obsoleto (metadato fundacional)
A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.	componente obsoleto (metadato fundacional)
A rare non-syndromic uterovaginal malformation with characteristics of variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhoea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems.	componente obsoleto (metadato fundacional)
A rare normolipemic non-Langerhans cell histiocytosis characterised by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumours up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	componente obsoleto (metadato fundacional)
A rare normolipemic non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjunctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthoma macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.	componente obsoleto (metadato fundacional)
A rare odontogenic neoplasm with characteristics of aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The neoplasm may metastasize, most commonly to the cervical lymph nodes and the lungs.	componente obsoleto (metadato fundacional)
A rare ophthalmic condition with characteristics of the formation of excessive scar tissue between the conjunctiva/Tenon capsule and the sclera at the surgical site following glaucoma filtration surgery. Scarring can occur months or years after surgery, resulting in treatment failure with poor postoperative control of intraocular pressure and potentially loss of vision.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder characterised by visual abnormalities (such as myopia, strabismus or amblyopia) due to the presence of myelinated retinal nerve fibres, which appear as whitish patches with feathery edges at the level of the retinal nerve fibre layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder characterized by visual abnormalities (such as myopia, strabismus or amblyopia) due to the presence of myelinated retinal nerve fibers, which appear as whitish patches with feathery edges at the level of the retinal nerve fiber layer and may be continuous or discontinuous with the optic nerve head. The defect can be unilateral or bilateral.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with characteristics of a non-infectious uveitis potentially involving all parts of the uveal tract and due to a paraneoplastic autoimmune reaction. The signs and symptoms usually precede the neoplasm diagnosis and may include ocular redness and pain, light sensitivity, blurred vision, floaters and decreased vision. The most classic form is the intermediate uveitis associated with anti-CV2 antibodies in small-cell lung cancer or other neoplasms. Other ocular and/or extra-ocular manifestations are commonly present in addition.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with characteristics of clinical signs of Graves orbitopathy (such as unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with characteristics of idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc edema is observed in most cases. The condition is usually unilateral.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with characteristics of idiopathic orbital inflammation in which the specific target tissue is the optic nerve sheath. Patients typically present with ocular pain, pain on eye movement, visual symptoms with loss of vision progressing over several weeks, dyschromatopsia and variable visual field defects. Orbital signs and symptoms may be present and include ptosis, ophthalmoplegia, and exophthalmos. Optic disc oedema is observed in most cases. The condition is usually unilateral.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with cranial nerve involvement and characteristics of dysfunction of the superior oblique muscle with typical eye motility patterns including elevation in adduction, V-pattern related to reduced abduction force in downgaze with unopposed adduction by the inferior rectus muscle and excyclotorsion. Patients may present with contralateral head tilt to compensate for vertical binocular misalignment and diplopia.	componente obsoleto (metadato fundacional)
A rare ophthalmic disorder with cranial nerve involvement and characteristics of partial or complete ptosis and ophthalmoplegia with impaired ability to elevate, depress or adduct the eyeball, causing strabismus and amblyopia. The pupils can also be dilated. The condition is typically unilateral and may present with or without aberrant regeneration.	componente obsoleto (metadato fundacional)
A rare organic aciduria characterised by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behaviour, optic atrophy or spasticity. Brain imaging may show generalised cerebral atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare organic aciduria characterised by neonatal onset of hypotonia, recurrent apnoeic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	componente obsoleto (metadato fundacional)
A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.	componente obsoleto (metadato fundacional)
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	componente obsoleto (metadato fundacional)
A rare osteogenesis imperfecta-like disorder, described in two patients to date, with clinical characteristics of persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.	componente obsoleto (metadato fundacional)
A rare osteonecrosis disease with characteristics of death of bone cellular components secondary to an interruption of the subchondral blood supply. The disease typically manifests with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, haemoglobinopathies, and/or underlying autoimmune or metabolic disease amongst others has been observed.	componente obsoleto (metadato fundacional)
A rare osteonecrosis disease with characteristics of death of bone cellular components secondary to an interruption of the subchondral blood supply. The disease typically manifests with unilateral or bilateral, unifocal or multifocal lesions usually located on the epiphysis, metaphysis and/or diaphysis of the femoral heads, knees, shoulders, ankles and/or wrists, leading to gradual onset of pain and progressive joint degeneration resulting in loss of function. Association with corticosteroid usage, alcoholism, hyperbaric events, radiation or cytotoxic agent exposure, hemoglobinopathies, and/or underlying autoimmune or metabolic disease amongst others has been observed.	componente obsoleto (metadato fundacional)
A rare osteonecrosis with characteristics of an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental intervention, trauma and infection. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures or fistulae.	componente obsoleto (metadato fundacional)
A rare osteonecrosis with characteristics of bone necrosis due to disrupted blood supply in the absence of a known cause. Affected bones include the femoral head, talus, vertebral body, humerus and scaphoid among others. Patients may initially be asymptomatic but subsequently present with gradually developing refractory pain, swelling and reduced range of motion. If left untreated the condition may progress to bone collapse with secondary degeneration, fragmentation and pathological fracture as well as osteoarthritis.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngologic disease with characteristics of an indolent submucosal mass of variable size and extent, most commonly arising in the anterior nasal cavity, involving the nasal septum and lateral nasal wall and potentially extending into the adjacent sinuses. Occurrence in the larynx and lower respiratory tract or the orbit is rare. Histological examination shows concentric angiocentric stromal fibrosis (onionskin fibrosis) and prominent eosinophils. Increased numbers of IgG4-positive plasma cells in the lesion may also be observed, in addition to elevated serum IgG4. Patients typically present with long-standing obstructive symptoms.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngologic disease with characteristics of dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngologic disease with characteristics of the unilateral or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation characterised by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibres present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation characterized by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibers present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome and may be associated with a hypoplastic internal auditory or cochlear nerve canal.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation with a unilateral or bilateral fistula located at the corner of the mouth, where the vermillion border of the upper lip meets that of the lower lip. The lesion is lined by labial mucosa. It is potentially susceptible to infection.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorisation of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation with characteristics of varying degrees of malformation of the inner ear associated with severe to profound congenital sensorineural hearing loss in the absence of cochlear nerve anomalies (hypoplasia or aplasia). Categorization of the malformation is based on the morphology of the cochlea, modiolus, and lamina cribrosa, which can range from normal development of these structures (with the malformation being limited to other structures of the inner ear) to their complete absence.	componente obsoleto (metadato fundacional)
A rare otorhinolaryngological malformation with the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistula and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis and dysphagia.	componente obsoleto (metadato fundacional)
A rare ovarian germ cell malignant tumor arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.	componente obsoleto (metadato fundacional)
A rare ovarian germ cell malignant tumour arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterised by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin. It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma.	componente obsoleto (metadato fundacional)
A rare overgrowth syndrome associated with multiple congenital anomalies with characteristics of tall stature, large hands and feet with large thumbs and halluces, spatulate digits, developmental delay and facial dysmorphism. Biallelic loss of function variants in FIBP (11q13.1) are responsible for this phenotype. Transmission is autosomal recessive.	componente obsoleto (metadato fundacional)
A rare overgrowth syndrome with characteristics of long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibia and dysmorphic facial features (hypertelorism, high palate, or micrognathia) along with aortic root dilatation and umbilical hernia have also been reported.	componente obsoleto (metadato fundacional)
A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	componente obsoleto (metadato fundacional)
A rare overgrowth syndrome with skeletal involvement and characteristics of pre or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodelling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.	componente obsoleto (metadato fundacional)
A rare palpebral disorder characterised by recurrent episodes of painless eyelid oedema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.	componente obsoleto (metadato fundacional)
A rare palpebral disorder characterized by recurrent episodes of painless eyelid edema. It usually occurs bilaterally, typically affects the upper eyelids, and may manifest as a hypertrophic form resulting in orbital fat herniation through a weakened orbital septum, or an atrophic form with atrophy of redundant eyelid skin and superior nasal fat pads. Additional findings are formation of pseudo epicanthal folds, lacrimal gland prolapse or ptosis.	componente obsoleto (metadato fundacional)
A rare pancreatobiliary disease characterised by marked duct-centred lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts.	componente obsoleto (metadato fundacional)
A rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphoid follicles around the affected bile and pancreatic ducts.	componente obsoleto (metadato fundacional)
A rare parasitic disease characterised by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), haemorrhage, pain, oedema, sensory loss, malodour, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	componente obsoleto (metadato fundacional)
A rare parasitic disease characterized by the infestation of natural body cavities with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis.	componente obsoleto (metadato fundacional)
A rare parkinsonian disorder with characteristics of unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated.	componente obsoleto (metadato fundacional)
A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex and cerebellum.	componente obsoleto (metadato fundacional)
A rare paroxysmal movement disorder with episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements). This is accompanied by ataxic symptoms (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.	componente obsoleto (metadato fundacional)
A rare paroxysmal movement disorder with onset in childhood or adolescence. The disease has characteristics of paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.	componente obsoleto (metadato fundacional)
A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported.	componente obsoleto (metadato fundacional)
A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported.	componente obsoleto (metadato fundacional)
A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).	componente obsoleto (metadato fundacional)
A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernia and microcephaly.	componente obsoleto (metadato fundacional)
A rare partial autosomal monosomy with characteristics of mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip, cleft palate, cerebellar and cardiac malformations, psychomotor development delay, attention deficit hyperactivity disorder, autism. Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy characterised by global developmental delay, intellectual disability, autistic behaviour, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy characterised by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioural abnormalities.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy/tetrasomy characterised by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioural abnormalities. Additional features may include craniosynostosis and macrocephaly.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre and postnatal overgrowth, renal anomalies (for example horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.	componente obsoleto (metadato fundacional)
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.	componente obsoleto (metadato fundacional)
A rare partial deletion of the long arm of chromosome 14 with characteristics of ocular anomalies (anophthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations and hearing impairment. Smaller 14q22 deletions may have variable expression.	componente obsoleto (metadato fundacional)
A rare partial duplication of the long arm of chromosome 17 with characteristics of a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles and foot deformities. Facial dysmorphism, cardiac and renal anomalies and syringomyelia may also be observed.	componente obsoleto (metadato fundacional)
A rare partial monosomy of the short arm of chromosome 17 with a variable phenotype. The disease has characteristics of prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphism including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia but not lissencephaly.	componente obsoleto (metadato fundacional)
A rare peripheral neuropathy with characteristics of acute onset of unilateral facial muscle weakness with Bell's phenomenon. It is non-progressive, resolves spontaneously and it might be recurrent with no obvious precipitating factors.	componente obsoleto (metadato fundacional)
A rare persistent combined dystonia characterised by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalised dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association.	componente obsoleto (metadato fundacional)
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face and neck. Variable developmental delay and intellectual disability, along with mild microcephaly, short stature, abnormal eye movements and slightly dysmorphic facial features have been reported in association.	componente obsoleto (metadato fundacional)
A rare pervasive developmental disorder with characteristics of microcephaly, profound developmental delay, intellectual disability, bilateral cataracts, severe epilepsy including infantile spasms, hypotonia, irritability, feeding difficulties leading to failure to thrive and stereotypic hand movements. The disease manifests in infancy. Brain imaging reveals delay in myelination and cerebral atrophy.	componente obsoleto (metadato fundacional)
A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1).	componente obsoleto (metadato fundacional)
A rare potentially fatal genetic visceral malformation syndrome characterised by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinaemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.	componente obsoleto (metadato fundacional)
A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.	componente obsoleto (metadato fundacional)
A rare potentially lethal oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and with characteristics of septic thrombophlebitis of the internal jugular vein that leads to septic usually pulmonary embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain and tonsillopharyngitis.	componente obsoleto (metadato fundacional)
A rare potentially life-threatening genetic endocrine disease characterised by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioural disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatraemia, hypochloraemia), respiratory failure and late-onset neuroendocrine tumours may also be associated.	componente obsoleto (metadato fundacional)
A rare potentially life-threatening genetic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia (for example impaired gastrointestinal motility, abnormal cardiac rhythm, thermal dysregulation), hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies (for example glucocorticoid deficiency, puberty dysregulation), electrolyte imbalances (for example hypo/hypernatremia, hypochloremia), respiratory failure and late-onset neuroendocrine tumors may also be associated.	componente obsoleto (metadato fundacional)
A rare potentially life-threatening vascular malformation with characteristics of a direct communication between an artery and a vein, without the interposition of the capillary bed, occurring in the systemic circulation (mainly the cranium, liver, lungs, extremities, and vessels in or near the thoracic wall). Manifestations are variable depending on size and extent of the fistula, the involved blood vessels and the precise location of the collaterals and may include systolic or continuous murmur over the affected organ, tachycardia, increased stroke volume, cardiomegaly and increased pulmonary vascular markings.	componente obsoleto (metadato fundacional)
A rare potentially sight-threatening acquired ocular disease characterised by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungal or protist infection, manifesting with variable symptoms, such as conjunctival hyperaemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	componente obsoleto (metadato fundacional)
A rare potentially sight-threatening acquired ocular disease characterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungal or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent.	componente obsoleto (metadato fundacional)
A rare potentially sight-threatening ocular disease not attributed to any specific ocular or systemic cause. The disease has characteristics of focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (such as choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported.	componente obsoleto (metadato fundacional)
A rare potentially sight-threatening ocular disease not attributed to any specific ocular or systemic cause. The disease has characteristics of focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (such as choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular oedema and choroidal neovascularisation) has been reported.	componente obsoleto (metadato fundacional)
A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood.	componente obsoleto (metadato fundacional)
A rare predominantly pure hereditary spastic paraplegia with characteristics of juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment and urinary symptoms. Cognition is normal.	componente obsoleto (metadato fundacional)
A rare premature aging syndrome with characteristics of pre and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanelle and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterised by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic haematological feature of this disease.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterised by osteosclerosis localised predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterised by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centres and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterised by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalisation of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterized by severe early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, and joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (for example short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (for example microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (for example pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	concepto inactivo (metadato fundacional)
A rare primary bone dysplasia disorder characterised by strikingly small secondary ossification centres (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalised joint laxity have also been reported.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder characterised by the association of dental anomalies (oligodontia with pointed incisors) and generalised platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	concepto inactivo (metadato fundacional)
A rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.	componente obsoleto (metadato fundacional)
A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.	componente obsoleto (metadato fundacional)

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Reference Sets

conjunto de referencias descriptivas de la estructura de otros conjuntos de referencias

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Id	Description	Lang	Type	Status	Case?	Module
2911447019	conjunto de referencias atributo-valor de motivo de inactivación de descripciones	es	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
2911569012	conjunto de referencias atributo-valor de motivo de inactivación de descripciones (metadato fundacional)	es	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
900000000001069012	Description inactivation indicator attribute value reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001070013	Description inactivation indicator reference set	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)
900000000001071012	Description inactivation indicator attribute value reference set (foundation metadata concept)	en	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador para componentes del modelo de SNOMED CT (metadato del núcleo)