Retinitis pigmentosa 91

Preferred Label : Retinitis pigmentosa 91;

Symbol : RP91;

CISMeF acronym : BCAMD; MCDCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macular dystrophy, benign concentric annular; MCDCA; BCAMD; Macular dystrophy, concentric annular;

Description : Benign concentric annular macular dystrophy (BCAMD) is initially characterized by parafoveal hypopigmentation and good visual acuity, but progresses to a retinitis pigmentosa (RP)-like phenotype with a bull's eye configuration (van Lith-Verhoeven et al., 2004).;

Inheritance : Autosomal dominant;

Prefixed ID : #153870;

Details

Origin ID

153870;

UMLS CUI

C5561925;

Automatic exact mappings (from CISMeF team)
- Benign concentric annular macular dystrophy [PASCAL descriptor]
- Benign concentric annular macular dystrophy [ICD-11 More detail]
- Benign concentric annular macular dystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Benign concentric annular macular dystrophy [ORDO Disease]
- Bull's eye maculopathy (finding) [SNOMED CT concept]
- Macular dystrophy, concentric annular [MeSH concept]
- concentric annular macular dystrophy [Disease (Nov.)]
- macular dystrophy, concentric annular [MeSH Supplementary Concept]
Genes related to phenotype
- Interphotoreceptor matrix proteoglycan 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dyschromatopsia [HPO term]
- Foveal hyperpigmentation [HPO term]
- Macular dystrophy [HPO term]
ORDO concept(s)
- Benign concentric annular macular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign concentric annular macular dystrophy [ORDO Disease]
- Bull's eye maculopathy [MedDRA LLT]
- Bull's eye maculopathy [HPO term]
- Bull's eye maculopathy (finding) [SNOMED CT concept]
- Macular dystrophy, concentric annular [MeSH concept]
- concentric annular macular dystrophy [Disease (Nov.)]
- macular dystrophy, concentric annular [MeSH Supplementary Concept]

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