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))
definition citation
orphanet
hasDbXref
OMIM:303100, ICD-10:H31.2, MedDRA:10008791, MeSH:D015794, UMLS:C0008525
notation
ORPHA:180
Term relations
Subclass of:
- disease
- has_age_of_onset some adolescent
- present_in some Europe and has_point_prevalence_range some 1-9 / 100 000 and has_point_prevalence_average_value value 2.0
- part_of some Isolated chorioretinal dystrophy
- has_age_of_onset some childhood
- has_age_of_onset some adult
- has_inheritance some X-linked recessive