achromatopsia 3

Preferred Label : achromatopsia 3;

MeSH synonym : total colorblindness with myopia; pingelapese; ACHM 3; achromatopsia with myopia; Achm3; pingelapese blindness; Achromatopsia 1; Rod monochromacy; Rod monochromatism;

Details

Origin ID

C536129;

UMLS CUI

C1849792;

Automatic exact mappings (from CISMeF team)
- Achromatopsia [ORDO Disease]
- cyclic nucleotide gated channel subunit beta 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Achromatopsia 3 [OMIM Phenotype]
- achromatopsia 3 [DO Concept]
- achromatopsia 3 [Disease (Nov.)]
MeSH term(s) associated for indexing
- color vision defects [MeSH Descriptor]
Record concept(s)
- Achromatopsia 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achromatopsia 3 [OMIM Phenotype]
- achromatopsia 3 [DO Concept]
- achromatopsia 3 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients