rieger eye malformation sequence - CISMeF

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CISMeF

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Rieger eye malformation sequenceSNOMED Notion

Preferred Label : rieger eye malformation sequence;

Details

Origin ID

D4-01211;

UMLS CUI

C3495489;

Automatic exact mappings (from CISMeF team)
- Goniosynechiae [MedDRA LLT]
- Krause-Kivlin syndrome [MeSH Supplementary Concept]
- Other adhesions and disruptions of iris and ciliary body [ICD-10 Sub-category (who)]
- Other congenital malformations of anterior segment of eye [ICD-10 Sub-category (who)]
- Peters plus syndrome [ORDO Disease]
- Peters syndrome [PASCAL descriptor]
- Peters-plus syndrome [OMIM Phenotype]
CISMeF manual mappings
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Axenfeld-Rieger anomaly [MeSH concept]
- Axenfeld-Rieger syndrome [ORDO Disease]
- Axenfeld-Rieger syndrome [MeSH Supplementary Concept]
- Rieger anomaly [HPO term]
- Rieger anomaly [ORDO Disease]
- Rieger eye malformation sequence (disorder) [SNOMED CT concept]
- Rieger's anomaly [MedDRA LLT]
ICD-10 exact mapping(s)
- Other congenital malformations of anterior segment of eye [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Anterior segment developmental anomaly without extraocular manifestations [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-syndromic developmental defect of the eye [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- developmental anomaly, nos [SNOMED Notion]
- iris, nos [SNOMED Notion]
- trabeculum corneosclerale [SNOMED Notion]
See also inter- (CISMeF)
- Rieger syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Irido-trabecular dysgenesis (disorder) [SNOMED CT concept]
- Rieger eye malformation sequence (disorder) [SNOMED CT concept]

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06/07/2025

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