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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
170437013 Hereditary degenerative disease of central nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6261091000241112 maladie dégénérative héréditaire du SNC (système nerveux central) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261101000241115 maladie dégénérative héréditaire du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261091000241112 maladie dégénérative héréditaire du SNC (système nerveux central) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6261101000241115 maladie dégénérative héréditaire du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

368 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 (core metadata concept)
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary degenerative disease of central nervous system Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 2 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 3 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 4 Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 5 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome type 1 (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Integral membrane protein 2B related amyloidosis (disorder) Is a False Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive isolated optic atrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Familial infantile bilateral striatal necrosis Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
4H leucodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
LAMA5-related multisystemic syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Non-progressive predominantly posterior cavitating leucodystrophy with peripheral neuropathy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset calcifying leucoencephalopathy, skeletal dysplasia Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
NAD(P)HX dehydratase deficiency Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
NAD(P)HX epimerase deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cholestanol storage disease Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi Goutieres syndrome (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spongy degeneration of central nervous system (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Metachromatic leukodystrophy Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterized by early infantile onset of progressive neurological deterioration with seizures, spasticity, and lack of psychomotor development. Brain imaging shows severe leukodystrophy and abnormalities of neuronal migration. Lactic acidosis is common. The disease is usually fatal in early childhood. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial disease characterised by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. Patients do not achieve independent ambulation or meaningful speech. Brain imaging may show progressive cerebellar or diffuse atrophy and signal abnormalities of the basal ganglia. Serum lactate is often elevated. Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Krabbe disease due to saposin A deficiency (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination of early myelinating structures Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Parkinsonism with polyneuropathy (disorder) Is a True Hereditary degenerative disease of central nervous system Inferred relationship Existential restriction modifier (core metadata concept)

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