106018006: hereditaire degeneratieve aandoening van centraal zenuwstelsel (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system

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

Descriptions:

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	degeneratie (afwijkende morfologie)	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	degeneratie (afwijkende morfologie)	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	True	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

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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
10181171000146117	hereditaire degeneratieve aandoening van centraal zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10181181000146115	erfelijke degeneratieve aandoening van CZS	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10181191000146118	hereditaire degeneratieve aandoening van centraal zenuwstelsel (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)