Grouped pigmentation of the retina

Preferred Label : Grouped pigmentation of the retina;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Grouped pigmentation of retinal pigment epithelium; Grouped pigmentation of the macula;

Description : Congenital grouped pigmentation of the retina is a rare disorder characterized by a grouping together of round to oval spots of pigment in one or more quadrants of the retina, except for the macula (summary by Renardel de Lavalette et al., 1991).;

Inheritance : Autosomal recessive;

Prefixed ID : 233800;

Détails

Origin ID

233800;

UMLS CUI

C1856244;

Automatic exact mappings (from CISMeF team)
- grouped pigmentation of the macula [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Retinal pigmentation grouped (disorder) [SNOMED CT concept]
- grouped pigmentation of the retina [Disease (Nov.)]
HPO term(s)
- Abnormality of retinal pigmentation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Metamorphopsia [HPO term]
See also inter- (CISMeF)
- grouped pigmentation of the macula [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- grouped pigmentation of the macula [MeSH Supplementary Concept]
- grouped pigmentation of the macula [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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