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Menkes disease

^ http://www.orpha.net/ORDO/Orphanet_565


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.

Synonyms: Steely hair disease, Kinky hair disease, MD, Menkes syndrome, Steely hair syndrome, MNK, X-linked copper deficiency, Trichopoliodystrophy, MK, Kinky hair syndrome

Term info

database cross reference
  • ICD-10:E83.0 (Inclusion term (The term is included under a ICD10 category and has not its own code))
  • ICD-10:E83.0 (NTBT (narrower term maps to a broader term))
  • MedDRA:10027294 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:309400 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0022716 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

UMLS:C0022716, MedDRA:10027294, OMIM:309400, ICD-10:E83.0

notation

ORPHA:565