aniridia - CISMeF

Preferred Label : aniridia;

MeSH definition : A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.;

MeSH synonym : irideremia; absent iris; congenital aniridia;

MeSH annotation : rudimentary iris; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES;

Wikipedia link : https://en.wikipedia.org/wiki/Aniridia;

Details

Origin ID

D015783;

UMLS CUI

C0003076;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Aniridia [OMIM phenotypic series]
- Aniridia [ICD-9 code]
- paired box 6 [HGNC gene]
Currated CISMeF NLP mapping
- ANIRIDIA [WHO-ART Included Term]
- Absence of iris [ICD-10 Sub-category]
- Absence of iris [ICD-10 Sub-category (who)]
- Aniridia [PASCAL descriptor]
- Aniridia [ICD-11 Subcategory]
- Aniridia [MedDRA Preferred Term]
- Aniridia [NCIt concept]
- Aniridia [HPO term]
- Aniridia [ORDO Disease]
- Congenital aniridia (disorder) [SNOMED CT concept]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- aniridia [SNOMED Notion]
DO Cross reference
- aniridia [DO Concept]
HPO term
- Aniridia [HPO term]
Manual BTNT mappings - CISMeF
- Syndromic aniridia [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Anterior segment developmental anomaly without extraocular manifestations [ORDO Disease]
- Major induction processes eye anomaly [ORDO Disease]
- Non-syndromic developmental defect of the eye [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Syndromic cataract [ORDO Disease]
ORDO relation(s)
- Aniridia [ORDO Disease]
Record concept(s)
- aniridia [MeSH concept]
Related MeSH Supplementary Concept(s)
- Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation [MeSH Supplementary Concept]
- aniridia and absent patella [MeSH Supplementary Concept]
- aniridia cerebellar ataxia mental deficiency [MeSH Supplementary Concept]
- aniridia, microcornea, and spontaneously reabsorbed cataract [MeSH Supplementary Concept]
- aniridia, type 2 [MeSH Supplementary Concept]
- ichthyosis prematurity syndrome [MeSH Supplementary Concept]
- walker dyson syndrome [MeSH Supplementary Concept]
- zazam sheriff phillips syndrome [MeSH Supplementary Concept]
SNOMED CT : localisation
- iris [MeSH Descriptor]
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 [MedDRA Preferred Term]
- Aniridia [ICD-9 code]
- Aniridia [ICD-11 Subcategory]
- Aniridia [NCIt concept]
- Aniridia 1 [OMIM Phenotype]
- Congenital aniridia (disorder) [SNOMED CT concept]
- Isolated aniridia [ORDO Disease]
- aniridia [DO Concept]
- aniridia [Disease (Nov.)]
- aniridia [SNOMED Notion]
- congenital aniridia [Disease (Nov.)]
Validated automatic mappings to BTNT
- Aniridia 1 [OMIM Phenotype]
- congenital aniridia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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