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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1121 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of nervous system est un(e) (attribut) Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Temtamy syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome acrootooculaire est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
dystonie-parkinsonisme de l'adulte est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Athabaskan brainstem dysgenesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cerebrooculonasal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome léthal d'hydrocéphalie, malformation cardiaque, hyperdensité osseuse est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Brain dopamine-serotonin vesicular transport disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 2 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, costovertebral dysplasia, Sprengel anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
dysplasie olfactogénitale est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de pseudo-infection intra-utérine congénitale est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Galloway Mowat syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Dystonia 16 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial caudal dysgenesis (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Infantile dystonia parkinsonism (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Inherited autonomic nervous system disorder (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Ethylmalonic encephalopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Endocrine-cerebro-osteodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
encéphalopathie nécrosante aigüe familiale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microlissencephaly micromelia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
ataxie cérébelleuse non progressive avec déficience intellectuelle est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Renier Gabreels Jasper syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Kufor Rakeb syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive posterior column ataxia and retinitis pigmentosa (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Growth delay due to insulin-like growth factor type 1 deficiency (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
McLeod neuroacanthocytosis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hereditary hyperekplexia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant striatal neurodegeneration (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia Beauce type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive ataxia due to ubiquinone deficiency (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Pyridoxal 5-phosphate dependent epilepsy (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Isolated optic nerve hypoplasia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
encéphalopathie épileptique avec démyélinisation cérébrale généralisée est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cataract, congenital heart disease, neural tube defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some

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