wilson's disease

Preferred Label : wilson's disease;

Details

Origin ID

D6-32310;

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]
CISMeF manual mappings
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
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]
- Hepatolenticular Degeneration [NCIt 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]
ICD-10 exact mapping(s)
- Disorders of copper metabolism [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
- Rare neurologic disease with psychiatric involvement [ORDO Disease]
- Supranuclear eye movement disorder [ORDO Disease]
Metaterm(s)
- hepatology [CISMeF Metaterm]
- metabolism [CISMeF Metaterm]
Référence SNOMED
- brain, nos [SNOMED Notion]
- cornea, nos [SNOMED Notion]
- degeneration, nos [SNOMED Notion]
- deposition of copper [SNOMED Notion]
- kidney, nos [SNOMED Notion]
- liver, nos [SNOMED Notion]
SNOMED CT concept
- Wilson's disease (disorder) [SNOMED CT concept]
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]
- Hepatolenticular Degeneration [NCIt concept]
- Westphal-Strumpell syndrome (disorder) [SNOMED CT concept]
- Wilson disease [OMIM Phenotype]
- Wilson disease [ORDO Disease]
- Wilson disease [Disease (Nov.)]
- Wilson disease [DO Concept]
- Wilson disease [PASCAL descriptor]
- Wilson disease [ICD-11 Sub-sub category]
- Wilson's disease [MedDRA LLT]
- Wilson's disease (disorder) [SNOMED CT concept]
- hepatolenticular degeneration [MeSH Descriptor]
- hepatolenticular degeneration [MeSH concept]
- wilson disease [MedlinePlus Topic]
Validated automatic mappings to NTBT
- disorders of copper metabolism [Error of metabolism category]

Keyword's position in hierarchy(ies) :

Main resources

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