achromatopsia 2

Preferred Label : achromatopsia 2;

MeSH synonym : RMCH2; rod monochromatism 2; total color blindness; ACHM2; rod monochromacy 2; colorblindness, total;

Details

Origin ID

C536128;

UMLS CUI

C1857618;

Automatic exact mappings (from CISMeF team)
- Achromatopsia [ORDO Disease]
- Achromatopsia [MedDRA LLT]
- Achromatopsia (disorder) [SNOMED CT concept]
- Blindness color total [MedDRA LLT]
- Blindness colour total [MedDRA LLT]
- Monochromacy [HPO term]
- cyclic nucleotide gated channel subunit alpha 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Achromatopsia 2 [NCIt concept]
- Achromatopsia 2 [OMIM Phenotype]
- achromatopsia 2 [DO Concept]
- achromatopsia 2 [Disease (Nov.)]
HPO term
- Monochromacy [HPO term]
MeSH term(s) associated for indexing
- color vision defects [MeSH Descriptor]
Record concept(s)
- Achromatopsia 2 [MeSH concept]
See also inter- (CISMeF)
- Complete achromatopsia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achromatopsia 2 [OMIM Phenotype]
- Achromatopsia 2 [NCIt concept]
- achromatopsia 2 [DO Concept]
- achromatopsia 2 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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