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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
Parkinsonian pyramidal syndrome 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
Phytanic acid storage disease 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 leucodystrophy, adult type Is a True 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive encephalopathy with oedema, 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 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 leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Microphthalmia with brain atrophy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Brain calcification Rajab type Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial Alzheimer-like prion disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Odontoleukodystrophy Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Retinal ischaemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Infantile choroidocerebral calcification syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
CAMOS syndrome 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
Bonnemann Meinecke Reich syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Spastic paraparesis and deafness Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial Creutzfeldt-Jakob Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Behavioural variant of frontotemporal dementia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Pelizaeus Merzbacher like disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Prion protein systemic amyloidosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Huntington disease-like syndrome due to C9ORF72 expansions 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome Is a False Hereditary degenerative disease of central nervous system Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease 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's disease Is a True 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
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
ABri amyloidosis 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant late onset Parkinson disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Vanishing white matter disease 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 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 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 leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy 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 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 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 2 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 3 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 4 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 5 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 1 Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
ITM2B-related amyloidosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive isolated optic atrophy 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

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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