Choroideremia - CISMeF

Preferred Label : Choroideremia;

Symbol : CHM;

CISMeF acronym : CHM; TCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tapetochoroidal dystrophy, progressive; TCD;

Included titles and symbols : Choroidal sclerosis;

Description : Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye (Cremers et al., 1990). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the CHM and POU3F4 (300039) genes on Xq21; X-linked deafness-2 with stapes fixation (DFNX2; 304400) is caused by mutation in the CHM gene.;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the Rab escort protein 1 gene (CHM, 300390.0001);

Prefixed ID : #303100;

Details

Origin ID

303100;

UMLS CUI

C0008525;

Automatic exact mappings (from CISMeF team)
- CHM Rab escort protein [HGNC gene]
- CHM Rab escort protein [ORDO Gene]
- Choroidal degeneration [ICD-11 Category]
- Choroidal sclerosis [MeSH concept]
- Choroidal sclerosis [PASCAL descriptor]
- Choroidal sclerosis [MedDRA Preferred Term]
- Choroidal sclerosis [MeSH Supplementary Concept]
- Choroidal sclerosis (finding) [SNOMED CT concept]
- Hereditary choroidal dystrophy [ICD-10 Sub-category (who)]
- Mari Language [NCIt concept]
- choroidal sclerosis [DO Concept]
Currated CISMeF NLP mapping
- Choroideraemia [MedDRA LLT]
- Choroideremia [PASCAL descriptor]
- Choroideremia [ICD-11 More detail]
- Choroideremia [ICD-9 code]
- Choroideremia [HPO term]
- Choroideremia [NCIt concept]
- Choroideremia [ORDO Disease]
- Choroideremia [MedDRA LLT]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [Disease (Nov.)]
- choroideremia [DO Concept]
- choroideremia [MeSH Descriptor]
- choroideremia [MeSH concept]
- choroideremia [SNOMED Notion]
DO Cross reference
- choroideremia [DO Concept]
False automatic mappings
- Chad [NCIt concept]
- Transcranial Doppler Ultrasonography [NCIt concept]
Genes related to phenotype
- Chm rab escort protein [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Childhood onset [HPO term]
- Chorioretinal atrophy [HPO term]
- Chorioretinal degeneration [HPO term]
- Choroideremia [HPO term]
- Constriction of peripheral visual field [HPO term]
- Granular macular appearance [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Juvenile onset [HPO term]
- Nummular pigmentation of the fundus [HPO term]
- Nyctalopia [HPO term]
- Pigmentary retinopathy [HPO term]
- Progressive visual loss [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Visual impairment [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Choroideremia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choroideraemia [MedDRA LLT]
- Choroideremia [ORDO Disease]
- Choroideremia [NCIt concept]
- Choroideremia [MedDRA LLT]
- Choroideremia [HPO term]
- Choroideremia [ICD-9 code]
- Choroideremia [PASCAL descriptor]
- Choroideremia (disorder) [SNOMED CT concept]
- choroideremia [SNOMED Notion]
- choroideremia [MeSH Descriptor]
- choroideremia [MeSH concept]
- choroideremia [DO Concept]
- choroideremia [Disease (Nov.)]

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