Menkes disease

Preferred Label : Menkes disease;

ICD-11 definition : Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. MD is an X-linked disease primarily affecting males while females are usually unaffected carriers.;

ICD-11 synonym : Steely hair disease; Kinky hair disease; Trichopoliodystrophy;

Details

Origin ID

986728180;

UMLS CUI

C0022716;

Currated CISMeF NLP mapping
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [ORDO Disease]
- Menkes disease [OMIM Phenotype]
- Menkes disease [DO Concept]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky-hair syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [DO Concept]
- Menkes disease [OMIM Phenotype]
- Menkes disease [ORDO Disease]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky hair syndrome [MeSH Descriptor]
- menkes kinky hair syndrome [MeSH concept]
- menkes kinky-hair syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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