Axenfeld-Rieger syndrome

Preferred Label : Axenfeld-Rieger syndrome;

MeSH note : Typre 1 caused by mutation in PITX2 gene; Type 3 caused by mutation in FOXC1 gene;

CISMeF synonym : rieger anomaly; rieger malformation; Axenfeld-Rieger anomaly; Axenfeld-Rieger syndrome, type 3; axenfeld syndrome; Axenfeld-Rieger syndrome, type 1; Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss; iridogoniodysgenesis with somatic anomalies;

MeSH synonym : rieger syndrome; Iridogoniodysgenesis with somatic anomalies;

MeSH hyponym : Axenfeld Anomaly; Rieger Syndrome, Type 3; Anterior Chamber Cleavage Syndrome; Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss; Rieger Syndrome, Type 1;

Details

Origin ID

C535679;

UMLS CUI

C0265341;

Automatic exact mappings (from CISMeF team)
- Anterior chamber cleavage syndrome [MedDRA Preferred Term]
- Anterior chamber cleavage syndrome (disorder) [Inactive SNOMED CT concept]
- Axenfeld anomaly [HPO term]
- Axenfeld anomaly [MedDRA LLT]
- Axenfeld anomaly [ORDO Disease]
- Axenfeld anomaly [ICD-11 More detail]
- Axenfeld anomaly (disorder) [SNOMED CT concept]
- Axenfeld syndrome [PASCAL descriptor]
- Axenfeld-Rieger syndrome [MedDRA LLT]
- Axenfeld-rieger syndrome [OMIM phenotypic series]
- Axenfeld-rieger syndrome, type 3 [OMIM Phenotype]
- Iridocorneal mesodermal dysgenesis [PASCAL descriptor]
- anterior chamber cleavage syndrome [SNOMED Notion]
CISMeF manual mappings
- Rieger eye malformation sequence (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Axenfeld's syndrome [MedDRA LLT]
- Axenfeld-Rieger syndrome [DO Concept]
- Axenfeld-Rieger syndrome [ORDO Disease]
- Axenfeld-Rieger syndrome (disorder) [SNOMED CT concept]
- Axenfeld-Rieger syndrome type 1 [DO Concept]
- Axenfeld-rieger syndrome, type 1 [OMIM Phenotype]
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Rieger Syndrome [NCIt concept]
- Rieger Syndrome Type 1 [NCIt concept]
- Rieger anomaly [HPO term]
- Rieger anomaly [ORDO Disease]
- Rieger syndrome [Disease (Nov.)]
- Rieger syndrome [ICD-11 More detail]
- Rieger syndrome (disorder) [SNOMED CT concept]
- Rieger's anomaly [MedDRA LLT]
- Rieger's syndrome [MedDRA LLT]
- rieger eye malformation sequence [SNOMED Notion]
- rieger syndrome [SNOMED Notion]
DO Cross reference
- Axenfeld-Rieger syndrome [DO Concept]
HPO term
- Axenfeld anomaly [HPO term]
- Rieger anomaly [HPO term]
MeSH term(s) associated for indexing
- anterior eye segment [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- eye diseases, hereditary [MeSH Descriptor]
ORDO relation(s)
- Axenfeld-Rieger syndrome [ORDO Disease]
Record concept(s)
- Axenfeld-Rieger Syndrome, Type 1 [MeSH concept]
- Axenfeld-Rieger anomaly [MeSH concept]
- Axenfeld-Rieger syndrome [MeSH concept]
- Axenfeld-Rieger syndrome, type 3 [MeSH concept]
- axenfeld syndrome [MeSH concept]
See also inter- (CISMeF)
- Axenfeld anomaly [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger syndrome [MedDRA LLT]
- Axenfeld-Rieger syndrome [DO Concept]
- Axenfeld-Rieger syndrome (disorder) [SNOMED CT concept]
- Rieger Syndrome [NCIt concept]
- Rieger anomaly [HPO term]
- Rieger syndrome (disorder) [SNOMED CT concept]
- Rieger's anomaly [MedDRA LLT]
- Rieger's syndrome [MedDRA LLT]
- rieger syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Axenfeld-Rieger syndrome type 3 [DO Concept]
Validated automatic mappings to NTBT
- anterior chamber cleavage syndrome [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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