Hepatolenticular Degeneration

Preferred Label : Hepatolenticular Degeneration;

NCIt synonyms : Wilson's Disease; Wilson Disease;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.;

Details

Origin ID

C84756;

UMLS CUI

C0019202;

Automatic exact mappings (from CISMeF team)
- ATPase copper transporting beta [ORDO Gene]
- ATPase copper transporting beta [HGNC gene]
- congenital anomaly digestive system [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Disorders of copper metabolism [ICD-10 Sub-category]
- Disorders of copper metabolism [ICD-10 Sub-category (who)]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [Disease (Nov.)]
- Wilson disease [DO Concept]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson's disease [Blood Transfusion thesaurus concept]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH Descriptor]
- hepatolenticular degeneration [MeSH concept]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
DO Cross reference
- Wilson disease [DO Concept]
See also inter- (CISMeF)
- Copper accumulation in liver [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral pseudosclerosis (disorder) [SNOMED CT concept]
- Hepato-lenticular degeneration [MedDRA Preferred Term]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson disease [PASCAL descriptor]
- Wilson disease [DO Concept]
- Wilson disease [Disease (Nov.)]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH concept]
- hepatolenticular degeneration [MeSH Descriptor]
- wilson disease [MedlinePlus Topic]
- wilson's disease [SNOMED Notion]
Validated automatic mappings to NTBT
- disorders of copper metabolism [Error of metabolism category]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ATP7B Gene [NCIt concept]
related_to_genetic_biomarker
- ATP7B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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