FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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 (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

326 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary degenerative disease of central nervous system morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Hereditary degenerative disease of central nervous system est un(e) (attribut) maladie dégénérative du système nerveux central true Inferred relationship Some
Hereditary degenerative disease of central nervous system morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system localisation d'une constatation (attribut) Structure of central nervous system (body structure) true Inferred relationship Some 1
Hereditary degenerative disease of central nervous system morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Hereditary degenerative disease of central nervous system localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Parkinsonian pyramidal syndrome (disorder) Due to True Hereditary degenerative disease of central nervous system Inferred relationship Some 2
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant late onset basal ganglia degeneration est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
HSMN IV est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary optic atrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
déficit en alpha-N-acétylgalactosaminidase est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Metachromatic leukodystrophy, adult type est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leigh's disease est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary cerebellar degeneration est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
paraplégie spastique héréditaire (trouble) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Gerstmann-Straussler-Scheinker syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Cerebroretinal microangiopathy with calcifications and cysts est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
RNA polymerase III-related leukodystrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Frontotemporal dementia with gene located on 3p11 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
GRN-related frontotemporal dementia est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
leucodystrophie autosomique dominante de l'adulte est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Brain calcification Rajab type (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Craniosynostosis and intracranial calcification syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Facial onset sensory and motor neuronopathy syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant striatal neurodegeneration (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Dermatoleukodystrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Spastic paraparesis co-occurrent with deafness (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial Creutzfeldt-Jakob (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Behavioral variant of frontotemporal dementia (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Prion protein systemic amyloidosis (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive cerebral atrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Gemignani syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive myoclonic epilepsy type 3 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
ADan amyloidosis est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Amyotrophic lateral sclerosis type 4 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Ferro-cerebro-cutaneous syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Fatal post-viral neurodegenerative disorder est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Wilson's disease est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Alexander's disease est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Fatal familial insomnia est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive cone-rod dystrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
diabète sucré et diabète insipide avec atrophie optique et surdité est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial dementia British type (disorder) est un(e) (attribut) False Hereditary degenerative disease of central nervous system Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Hereditary oculoleptomeningeal amyloid angiopathy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
maladie de Huntington est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant late onset Parkinson disease (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive familial Parkinson disease est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Childhood-onset basal ganglia degeneration syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Severe X-linked mitochondrial encephalomyopathy (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Combined oxidative phosphorylation defect type 27 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Leucoencephalopathy with calcifications and cysts est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Classical pantothenate kinase associated neurodegeneration est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Atypical pantothenate kinase associated neurodegeneration (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Psychomotor regression, oculomotor apraxia, movement disorder, nephropathy syndrome (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 2 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 3 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 4 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 5 (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Aicardi Goutieres syndrome type 1 est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Autosomal recessive isolated optic atrophy (disorder) est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some
Familial infantile bilateral striatal necrosis est un(e) (attribut) True Hereditary degenerative disease of central nervous system Inferred relationship Some

Page 1 of 2 End

This concept is not in any reference sets

Back to Start