Rieger Syndrome

Preferred Label : Rieger Syndrome;

NCIt related terms : Axenfeldt-Rieger Syndrome;

NCIt definition : A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius.;

Details

Origin ID

C131001;

UMLS CUI

C0265341;

Currated CISMeF NLP mapping
- Axenfeld-Rieger syndrome [ORDO Disease]
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- Axenfeld-Rieger syndrome [DO Concept]
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Rieger anomaly [HPO term]
- Rieger syndrome [ICD-11 More detail]
- Rieger syndrome (disorder) [SNOMED CT concept]
- Rieger's anomaly [MedDRA LLT]
- Rieger's syndrome [MedDRA LLT]
- rieger syndrome [SNOMED Notion]
DO Cross reference
- Axenfeld-Rieger syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axenfeld-Rieger syndrome [DO Concept]
- Axenfeld-Rieger syndrome [MeSH Supplementary 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]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- FOXC1 Gene [NCIt concept]
- PITX2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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