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
hereditaire spastische parese	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 (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
Parkinsonian pyramidal syndrome (disorder)	Due to	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some	2
Galactosylceramide beta-galactosidase deficiency	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant late onset basal ganglia degeneration	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
HSMN IV	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hereditary optic atrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Alpha-N-acetylgalactosaminidase deficiency	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Metachromatic leukodystrophy, adult type	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Leigh's disease	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hereditary cerebellar degeneration	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hereditary spastic paraplegia	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Gerstmann-Straussler-Scheinker syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Pelizaeus-Merzbacher disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Cerebroretinal microangiopathy with calcifications and cysts	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
RNA polymerase III-related leukodystrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Frontotemporal dementia with gene located on 3p11 (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
GRN-related frontotemporal dementia	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Adult onset autosomal dominant leukodystrophy (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Microphthalmia with brain atrophy syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Brain calcification Rajab type (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Craniosynostosis and intracranial calcification syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Familial Alzheimer-like prion disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Odontoleukodystrophy (disorder)	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Facial onset sensory and motor neuronopathy syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Infantile choroidocerebral calcification syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Dermatoleukodystrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Spastic paraparesis co-occurrent with deafness (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Familial Creutzfeldt-Jakob (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Behavioral variant of frontotemporal dementia (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Pelizaeus Merzbacher like disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Prion protein systemic amyloidosis (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal recessive cerebral atrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Gemignani syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Progressive myoclonic epilepsy type 3	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
ADan amyloidosis	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Amyotrophic lateral sclerosis type 4	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Huntington disease-like 1 (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Ferro-cerebro-cutaneous syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Fatal post-viral neurodegenerative disorder	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Wilson's disease	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Alexander disease	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Fatal familial insomnia	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Progressive cone-rod dystrophy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Wolfram syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Familial dementia British type (disorder)	Is a	False	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Hereditary oculoleptomeningeal amyloid angiopathy	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Huntington's chorea	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Early onset parkinsonism and intellectual disability syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant late onset Parkinson disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Vanishing white matter disease (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Progressive cerebellar ataxia with hypogonadism	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal recessive familial Parkinson disease	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Leucoencephalopathy with calcifications and cysts	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Infantile inflammatory bowel disease with neurological involvement (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Classical pantothenate kinase associated neurodegeneration	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Atypical pantothenate kinase associated neurodegeneration (disorder)	Is a	True	Hereditary degenerative disease of central nervous system	Inferred relationship	Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy 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)