achromatopsia 1

Preferred Label : achromatopsia 1;

MeSH synonym : rod monochromacy; rod monochromatism;

Origin ID

C536021;

UMLS CUI

C0302129;

Automatic exact mappings (from CISMeF team)
- Cone monochromatism (disorder) [SNOMED CT concept]
- Coned epiphyses of hands and feet [HPO term]
Currated CISMeF NLP mapping
- Achromatopsia [HPO term]
- Rod monochromatism [PASCAL descriptor]
- Rod monochromatism (disorder) [Inactive SNOMED CT concept]
- rod monochromacy [Disease (Nov.)]
- rod monochromatism [SNOMED Notion]
HPO term
- Achromatopsia [HPO term]
MeSH term(s) associated for indexing
- color vision defects [MeSH Descriptor]
Record concept(s)
- Achromatopsia 1 [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 [HPO term]
- Rod monochromatism [PASCAL descriptor]
- Rod monochromatism (disorder) [Inactive SNOMED CT concept]
- rod monochromacy [Disease (Nov.)]
- rod monochromatism [SNOMED Notion]
Validated automatic mappings to NTBT
- Achromatopsia [ORDO Disease]