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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

1219 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of nervous system Is a Disorder of nervous system (disorder) true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Coenzyme A synthase protein associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Beta-propeller protein-associated neurodegeneration (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Thyrocerebrorenal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Stimmler syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset Lafora body disease (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Prion protein systemic amyloidosis (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Isolated hereditary congenital facial paralysis (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Pyridoxine-dependent epilepsy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebral folate transport deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Isolated follicle stimulating hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive myoclonic epilepsy with dystonia Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Spectrin-associated autosomal recessive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial dyskinesia and facial myokymia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hot water reflex epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
Spastic ataxia with congenital miosis Is a False Hereditary disorder of nervous system Inferred relationship Some
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial hyperprolactinemia Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial cortical myoclonus Is a True Hereditary disorder of nervous system Inferred relationship Some
Fragile X associated tremor ataxia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 7 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 6 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 4 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 3 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Episodic ataxia type 5 (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Oro-facial digital syndrome type 14 Is a False Hereditary disorder of nervous system Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Myosclerosis (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Action myoclonus renal failure syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial focal epilepsy with variable foci Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Rolandic epilepsy, speech dyspraxia syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial multiple benign meningioma (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Pitt-Hopkins syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked non progressive cerebellar ataxia (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Moebius syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Hypermanganesemia with dystonia (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Ataxia pancytopenia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
CLCN2-related leukoencephalopathy Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Odontoleukodystrophy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Adult onset autosomal dominant leukodystrophy (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
RNA polymerase III-related leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Cerebroretinal vasculopathy Is a False Hereditary disorder of nervous system Inferred relationship Some
Dermatoleukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Is a True Hereditary disorder of nervous system Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a False Hereditary disorder of nervous system Inferred relationship Some
Familial mesial temporal lobe epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked parkinsonism with spasticity syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some

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