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Choroideremia

^ http://www.orpha.net/ORDO/Orphanet_180


Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.

Synonyms: Tapetochoroidal dystrophy, CHM

Term info

database cross reference
  • UMLS:C0008525 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:H31.2 (NTBT (narrower term maps to a broader term))
  • MedDRA:10008791 (E (exact mapping (the terms and the concepts are equivalent)))
  • MeSH:D015794 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:303100 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:H31.2 (Inclusion term (The term is included under a ICD10 category and has not its own code))
hasDbXref

OMIM:303100, ICD-10:H31.2, MedDRA:10008791, MeSH:D015794, UMLS:C0008525

notation

ORPHA:180