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
- MeSH:D015794 (E (Exact mapping: the two concepts are equivalent))
- OMIM:303100 (E (Exact mapping: the two concepts are equivalent))
- MedDRA:10008791 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0008525 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:H31.2 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Inclusion term (The ORPHA code is included under a ICD category and has not its own code).)
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180
hasDbXref
- MedDRA:10008791
- MeSH:D015794
- OMIM:303100
- UMLS:C0008525
- ICD-10:H31.2
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409947
- http://www.orpha.net/ORDO/Orphanet_409948
- http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409932
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409977
notation
- ORPHA:180
part of
- http://www.orpha.net/ORDO/Orphanet_519300
present in
- http://www.orpha.net/ORDO/Orphanet_409984
Term relations
Subclass of: