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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

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

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This concept is not in any reference sets

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