Macular Dystrophy, Retinal, 1

Preferred Label : Macular Dystrophy, Retinal, 1;

NCIt synonyms : NCMD; MCDR1; Retinal Macular Dystrophy-1; North Carolina Macular Dystrophy;

NCIt definition : An autosomal dominant form of macular dystrophy associated with mutation(s) in the DNase1 hypersensitivity site DHS6S1.;

Details

Origin ID

C168999;

UMLS CUI

C0730294;

Currated CISMeF NLP mapping
- Macular dystrophy, retinal, 1, North Carolina type [MeSH concept]
- Macular dystrophy, retinal, 1, north carolina type [OMIM Phenotype]
- North Carolina macular dystrophy [ICD-11 More detail]
- North Carolina macular dystrophy [ORDO Disease]
- North Carolina macular dystrophy (disorder) [SNOMED CT concept]
- macular dystrophy, retinal, 1, north carolina type [MeSH Supplementary Concept]
Has associated anatomic sites
- Eye [NCIt concept]
- Retina [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macular dystrophy, retinal, 1, North Carolina type [MeSH concept]
- Macular dystrophy, retinal, 1, north carolina type [OMIM Phenotype]
- North Carolina macular dystrophy [ORDO Disease]
- North Carolina macular dystrophy (disorder) [SNOMED CT concept]
- Progressive foveal dystrophy [HPO term]
- macular dystrophy, retinal, 1, north carolina type [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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