Aniridia - CISMeF

Preferred Label : Aniridia;

NCIt definition : A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.;

Details

Origin ID

C84563;

UMLS CUI

C0003076;

Automatic exact mappings (from CISMeF team)
- Aniridia [ICD-9 code]
- Aniridia [OMIM phenotypic series]
- paired box 6 [HGNC gene]
Currated CISMeF NLP mapping
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category (who)]
- Absence of iris [ICD-10 Sub-category]
- Aniridia [PASCAL descriptor]
- Aniridia [ICD-11 Subcategory]
- Aniridia [HPO term]
- Aniridia [MedDRA Preferred Term]
- Aniridia [ORDO Disease]
- Congenital aniridia (disorder) [SNOMED CT concept]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- aniridia [MeSH Descriptor]
- aniridia [MeSH concept]
- aniridia [SNOMED Notion]
- chromosome 11, deletion 11p [MeSH Supplementary Concept]
DO Cross reference
- aniridia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category]
- Absence of iris [ICD-10 Sub-category (who)]
- Aniridia [ORDO Disease]
- Aniridia [HPO term]
- Aniridia [ICD-9 code]
- Aniridia [ICD-11 Subcategory]
- Aniridia [MedDRA Preferred Term]
- Aniridia 1 [OMIM Phenotype]
- Congenital aniridia (disorder) [SNOMED CT concept]
- Isolated aniridia [ORDO Disease]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- aniridia [MeSH concept]
- aniridia [MeSH Descriptor]
- aniridia [SNOMED Notion]
- congenital aniridia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Aniridia 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
may_be_associated_disease_of_disease
- WAGR Syndrome [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients