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
This is just here as a test because I lose it
Term information
database cross reference
- MedDRA:10008791 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0008525 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:H31.2 (Inclusion term (The ORPHA code is included under a ICD10 category and has not its own code))
- OMIM:303100 (E (Exact mapping: the two concepts are equivalent))
- MeSH:D015794 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:H31.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
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