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363235000: Hereditary disorder of nervous system (disorder)

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

Descriptions:

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

1163 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 Existential restriction modifier
Hereditary disorder of nervous system Is a Disorder of nervous system true Inferred relationship Existential restriction modifier
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cortical blindness, intellectual disability, polydactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cyprus facial neuromusculoskeletal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Coenzyme A synthase protein associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hydrocephalus, tall stature, joint laxity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Beta-propeller protein-associated neurodegeneration Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Epilepsy telangiectasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Encephalopathy, intracerebral calcification, retinal degeneration syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Myoclonus, cerebellar ataxia, deafness syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Absent tibia, polydactyly, arachnoid cyst syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Thyrocerebrorenal syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Early-onset Lafora body disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy, dystonia, motor neuropathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Prion protein systemic amyloidosis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Isolated hereditary congenital facial paralysis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dandy-Walker malformation with postaxial polydactyly syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus, lymphedema, chorioretinopathy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pyridoxine-dependent epilepsy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebral folate transport deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Isolated follicle stimulating hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with late-onset spasticity Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy with dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spectrin-associated autosomal recessive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial dyskinesia and facial myokymia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hot water reflex epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Spastic ataxia with congenital miosis Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Deafness, encephaloneuropathy, obesity, valvulopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial hyperprolactinemia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypotonia, speech impairment, severe cognitive delay syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial myoclonus of cerebral cortex Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Fragile X associated tremor ataxia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia type 7 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia type 6 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia type 4 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia type 3 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Episodic ataxia type 5 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pachygyria, intellectual disability, epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Myosclerosis Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Action myoclonus renal failure syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial focal epilepsy with variable foci Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Rolandic epilepsy, speech dyspraxia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Familial multiple benign meningioma Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pitt-Hopkins syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Diencephalic mesencephalic junction dysplasia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia with saccadic intrusion syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked non progressive cerebellar ataxia Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomyelination neuropathy arthrogryposis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Moebius syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypermanganesemia with dystonia Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ataxia pancytopenia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy with mild cerebellar ataxia and white matter edema Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Odontoleukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Adult onset autosomal dominant leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Ribonucleic acid polymerase III-related leukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pelizaeus Merzbacher like disease Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebroretinal vasculopathy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Dermatoleukodystrophy Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Alazami type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Dauber type Is a False Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign familial mesial temporal lobe epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked cerebral, cerebellar, coloboma syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked parkinsonism with spasticity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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