Achromatopsia - CISMeF

Preferred Label : Achromatopsia;

NCIt definition : An autosomal recessive genetic disorder affecting the cone cells of the eye. It may be complete, in which the individual can only perceive black, white, or shades or gray, or incomplete, in which the individual has a residual amount of color vision.;

Details

Origin ID

C84528;

UMLS CUI

C0152200;

Automatic exact mappings (from CISMeF team)
- Achromatopsia [ICD-9 code]
Currated CISMeF NLP mapping
- Achromatopsia [PASCAL descriptor]
- Achromatopsia [HPO term]
- Achromatopsia [ORDO Disease]
- Achromatopsia [MedDRA LLT]
- Achromatopsia (disorder) [SNOMED CT concept]
- BLINDNESS COLOUR [WHO-ART Preferred Term]
- Blindness color total [MedDRA LLT]
- Blindness colour total [MedDRA LLT]
- Color blindness (disorder) [SNOMED CT concept]
- Color vision deficiencies [ICD-10 Sub-category]
- Colour blindness NOS [MedDRA LLT]
- Colour vision deficiencies [ICD-10 Sub-category (who)]
- Impairment of colour vision [ICD-11 Category]
- Monochromacy [HPO term]
- achromatopsia [Disease (Nov.)]
- achromatopsia [DO Concept]
- achromatopsia [MeSH concept]
- achromatopsia [SNOMED Notion]
- color vision defects [MeSH Descriptor]
DO Cross reference
- achromatopsia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Achromatopsia [ORDO Disease]
- Achromatopsia [ICD-9 code]
- Achromatopsia [HPO term]
- Achromatopsia [MedDRA LLT]
- Achromatopsia (disorder) [SNOMED CT concept]
- Blindness color total [MedDRA LLT]
- Blindness colour total [MedDRA LLT]
- Monochromacy [HPO term]
- Rod monochromatism (disorder) [Inactive SNOMED CT concept]
- achromatopsia [DO Concept]
- achromatopsia [SNOMED Notion]
- achromatopsia [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients