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Cartilage-hair hypoplasia

^ http://www.orpha.net/ORDO/Orphanet_175


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

Synonyms: Autosomal recessive metaphyseal chondrodysplasia, Metaphyseal chondrodysplasia, McKusick type

Term info

database cross reference
  • MedDRA:10069596 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:C535916 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:250250 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0220748 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q78.8 (Attributed)
  • ICD-10:Q78.8 (NTBT (narrower term maps to a broader term))
  • OMIM:250460 (NTBT (narrower term maps to a broader term))
hasDbXref

MedDRA:10069596, UMLS:C0220748, MeSH:C535916, OMIM:250460, OMIM:250250, ICD-10:Q78.8

notation

ORPHA:175