Retinitis Pigmentosa

Preferred Label : Retinitis Pigmentosa;

NCIt definition : A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.;

Details

Origin ID

C85045;

UMLS CUI

C0035334;

Automatic exact mappings (from CISMeF team)
- Hereditary retinal dystrophy [ICD-10 Sub-category (who)]
- Retinitis pigmentosa [OMIM phenotypic series]
- Retinitis pigmentosa, late-adult onset [OMIM Phenotype]
Currated CISMeF NLP mapping
- Pigmentary retinopathy [HPO term]
- Pigmented retinopathy NOS [MedDRA LLT]
- Retinitis pigmentosa [PASCAL descriptor]
- Retinitis pigmentosa [MedDRA Preferred Term]
- Retinitis pigmentosa [OMIM Phenotype]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis pigmentosa (disorder) [SNOMED CT concept]
- Retinitis pigmentosa/retinal pigmentary changes [HRDO Sign]
- Rod-cone dystrophy [HPO term]
- retinitis pigmentosa [Disease (Nov.)]
- retinitis pigmentosa [DO Concept]
- retinitis pigmentosa [MeSH Descriptor]
- retinitis pigmentosa [MeSH concept]
- retinitis pigmentosa [SNOMED Notion]
DO Cross reference
- retinitis pigmentosa [DO Concept]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-rod dystrophy 2 [OMIM Phenotype]
- Pigmentary retinopathy [HPO term]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis pigmentosa [OMIM Phenotype]
- Retinitis pigmentosa [PASCAL descriptor]
- Retinitis pigmentosa [MedDRA Preferred Term]
- Retinitis pigmentosa (disorder) [SNOMED CT concept]
- Retinitis pigmentosa/retinal pigmentary changes [HRDO Sign]
- Rod-cone dystrophy [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
- retinitis pigmentosa [SNOMED Notion]
- retinitis pigmentosa [MeSH Descriptor]
- retinitis pigmentosa [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients