Juvenile Huntington Disease

Preferred Label : Juvenile Huntington Disease;

NCIt definition : An early-onset form of Huntington disease (before age 20) caused by trinucleotide repeat expansion in the HTT gene, encoding huntingtin.;

Détails

Origin ID

C147072;

UMLS CUI

C0751208;

Currated CISMeF NLP mapping
- Juvenile Huntington disease [ORDO Disease]
- Juvenile onset Huntington's disease (disorder) [SNOMED CT concept]
- juvenile huntington disease [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Juvenile Huntington disease [ORDO Disease]
- Juvenile onset Huntington's disease (disorder) [SNOMED CT concept]
- juvenile huntington disease [MeSH concept]
Validated automatic mappings to NTBT
- huntington disease [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- HTT Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients