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

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

Descriptions:

Id Description Lang Type Status Case? Module
170437013 Hereditary degenerative disease of central nervous system en Synonym Active Entire term case insensitive SNOMED CT core module
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
223771000000118 Hereditary and degenerative diseases of the CNS en Synonym Inactive Only initial character case insensitive SNOMED CT United Kingdom Edition module

342 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 Existential restriction modifier
Hereditary degenerative disease of central nervous system Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 1
Hereditary degenerative disease of central nervous system Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier 1
Hereditary degenerative disease of central nervous system Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Hereditary degenerative disease of central nervous system Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 2 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 3 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 4 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 5 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Aicardi Goutieres syndrome type 1 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Integral membrane protein 2B related amyloidosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Autosomal recessive isolated optic atrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Familial infantile bilateral striatal necrosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
4H leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Laminin subunit alpha 5-related multisystemic syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Early-onset calcifying leukoencephalopathy, skeletal dysplasia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Leukodystrophy due to alkaline ceramidase 3 deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
NAD(P)HX dehydratase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
NAD(P)HX epimerase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier

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