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363235000: Hereditary disorder of nervous system (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Hereditary disorder of nervous system Is a Neurological disorder true Inferred relationship Some
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pelizaeus Merzbacher like disease Is a False Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome 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 oedema, hypsarrhythmia and optic atrophy syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephalic primordial dwarfism Alazami type Is a False Hereditary disorder of nervous system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) 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 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
Benign familial mesial temporal lobe epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
X-linked parkinsonism with spasticity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Proximal myopathy with extrapyramidal signs Is a True Hereditary disorder of nervous system Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Hereditary disorder of nervous system Inferred relationship Some
Huntington disease-like 3 Is a True Hereditary disorder of nervous system Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Cortical dysplasia with focal epilepsy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Hereditary disorder of nervous system Inferred relationship Some
Infantile epileptic dyskinetic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly Is a True Hereditary disorder of nervous system Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a False Hereditary disorder of nervous system Inferred relationship Some
Progressive polyneuropathy with bilateral striatal necrosis Is a True Hereditary disorder of nervous system Inferred relationship Some
Ptosis and vocal cord paralysis syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Non-acquired combined pituitary hormone deficiency, sensorineural hearing loss, spine abnormalities syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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