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

Status: current, Defined. 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 Active Case insensitive SNOMED CT core
577254011 Hereditary degenerative disease of central nervous system (disorder) en Fully specified name Active Case insensitive SNOMED CT core

342 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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
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 true 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 false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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 leucodystrophy 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
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome 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
Alkaline ceramidase 3 deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
NAD(P)HX dehydratase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
NAD(P)HX epimerase deficiency 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Inherited spastic paresis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive sclerosing poliodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive sensory ataxia of Charolais Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Arrested hydrocephalus Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Dalmatian leukodystrophy Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Azorean disease Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Parkinsonism due to heredodegenerative disorder Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2
Chorea due to heredodegenerative disorder Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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