Absence of iris

Preferred Label : Absence of iris;

Inclusion CIM-10 : Aniridia;

Diag associé à un acte (%) : 85.3;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q131;

UMLS CUI

C0003076;

Automatic exact mappings (from CISMeF team)
- 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)]
- Aniridia [NCIt concept]
- Aniridia [ORDO Disease]
- Aniridia [MedDRA Preferred Term]
- Aniridia [HPO term]
- Aniridia [PASCAL descriptor]
- Aniridia [ICD-11 Subcategory]
- Congenital aniridia (disorder) [SNOMED CT concept]
- aniridia [MeSH concept]
- aniridia [SNOMED Notion]
- aniridia [MeSH Descriptor]
- aniridia [Disease (Nov.)]
- aniridia [DO Concept]
- chromosome 11, deletion 11p [MeSH Supplementary Concept]
DO Cross reference
- aniridia [DO Concept]
Manual NTBT mappings (CISMeF)
- Syndromic aniridia [ORDO Disease]
Orphanet concepts
- Aniridia [ORDO Disease]
- Aniridia-intellectual disability syndrome [ORDO Disease]
- Aniridia-ptosis-intellectual disability-familial obesity syndrome [ORDO Disease]
- Isolated aniridia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- ANIRIDIA [WHO-ART Included Term]
- Aniridia [MedDRA Preferred Term]
- Aniridia [HPO term]
- Aniridia [NCIt concept]
- Aniridia [ORDO Disease]
- Aniridia [ICD-9 code]
- Aniridia [ICD-11 Subcategory]
- Aniridia 1 [OMIM Phenotype]
- Congenital aniridia (disorder) [SNOMED CT concept]
- Isolated aniridia [ORDO Disease]
- aniridia [MeSH Descriptor]
- aniridia [MeSH concept]
- aniridia [SNOMED Notion]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- congenital aniridia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Aniridia 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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