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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
Cyprus facial neuromusculoskeletal syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Coenzyme A synthase protein associated neurodegeneration (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Beta-propeller protein-associated neurodegeneration (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Thyrocerebrorenal syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Stimmler syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Early-onset Lafora body disease (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Prion protein systemic amyloidosis (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Isolated hereditary congenital facial paralysis (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome de Dandy-Walker-polydactylie postaxiale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebral folate transport deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Isolated follicle stimulating hormone deficiency est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy with dystonia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
dyskinésie familiale avec myokymie faciale est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hot water reflex epilepsy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Spastic ataxia with congenital miosis est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial hyperprolactinemia est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Familial cortical myoclonus est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 7 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 6 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 4 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 3 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 5 (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Myosclerosis (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Action myoclonus renal failure syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial focal epilepsy with variable foci est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Familial multiple benign meningioma (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Pitt-Hopkins syndrome est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Moebius syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Hypermanganesemia with dystonia (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Ataxia pancytopenia syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
CLCN2-related leukoencephalopathy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
leucodystrophie autosomique dominante de l'adulte est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
RNA polymerase III-related leukodystrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal vasculopathy (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Dermatoleukodystrophy est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Dauber type est un(e) (attribut) False Hereditary disorder of nervous system Inferred relationship Some
Benign familial mesial temporal lobe epilepsy est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some
Proximal myopathy with extrapyramidal signs est un(e) (attribut) True Hereditary disorder of nervous system Inferred relationship Some

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