Hypomyelinating Leukodystrophy-6

Preferred Label : Hypomyelinating Leukodystrophy-6;

NCIt synonyms : Hypomyelination with Atrophy of Basal Ganglia and Cerebellum; HLD6; HABC;

NCIt definition : A genetic disorder of infancy or early childhood caused by mutation(s) in the TUBB4A gene, encoding the tubulin beta-4A chain. It is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders.;

Details

Origin ID

C183310;

UMLS CUI

C2676244;

Currated CISMeF NLP mapping
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) [SNOMED CT concept]
- Hypomyelination with atrophy of basal ganglia and cerebellum [ORDO Disease]
- Hypomyelination with atrophy of basal ganglia or cerebellum [ICD-11 More detail]
- Leukodystrophy, hypomyelinating, 6 [OMIM Phenotype]
- hypomyelinating leukodystrophy 6 [DO Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) [SNOMED CT concept]
- Leukodystrophy, hypomyelinating, 6 [OMIM Phenotype]
- leukodystrophy, hypomyelinating, 6 [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 6 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TUBB4A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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