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106018006: Hereditary degenerative disease of central nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

369 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary degenerative disease of central nervous system Is a Degenerative disease of the central nervous system true Inferred relationship Some
Hereditary degenerative disease of central nervous system Associated morphology Degeneration false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Associated morphology Degeneration false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system (body structure) true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Associated morphology Degenerative abnormality true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system Is a Hereditary disorder of nervous system true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 2 Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 3 Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 4 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 5 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 1 Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive isolated optic atrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial infantile bilateral striatal necrosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
4H leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Auditory neuropathy, optic atrophy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
NAD(P)HX dehydratase deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
NAD(P)HX epimerase deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
USP18 deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Huntington disease-like 2 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Adrenoleukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Cholestanol storage disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Spongy degeneration of central nervous system Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Metachromatic leucodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 5 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 6 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Atypical Krabbe disease due to saposin A deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination of early myelinating structures (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Parkinsonism with polyneuropathy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some

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