Pierre Robin Syndrome

Preferred Label : Pierre Robin Syndrome;

NCIt related terms : Robin Sequence; Pierre Robin Sequence;

NCIt definition : A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate.;

Details

Origin ID

C85010;

UMLS CUI

C0031900;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Pierre Robin syndrome [PASCAL descriptor]
- Pierre Robin syndrome [ICD-11 Category]
- Pierre Robin syndrome [MedDRA LLT]
- Pierre Robin syndrome [MedDRA Preferred Term]
- Pierre robin syndrome [OMIM Phenotype]
- Pierre-Robin sequence [HPO term]
- Pierre-Robin syndrome [Disease (Nov.)]
- Robin sequence (disorder) [SNOMED CT concept]
- Robin's anomalad [MedDRA LLT]
- Robin's syndrome [MedDRA LLT]
- pierre robin syndrome [MeSH Descriptor]
- pierre robin syndrome [MeSH concept]
- robin sequence [SNOMED Notion]
DO Cross reference
- Weissenbacher-Zweymuller syndrome [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated Pierre Robin syndrome [ORDO Disease]
- Pierre Robin syndrome [MedDRA Preferred Term]
- Pierre Robin syndrome [PASCAL descriptor]
- Pierre Robin syndrome [MedDRA LLT]
- Pierre robin syndrome [OMIM Phenotype]
- Pierre-Robin sequence [HPO term]
- Pierre-Robin syndrome [Disease (Nov.)]
- Rare disease with Pierre Robin syndrome [ORDO Disease]
- Robin sequence (disorder) [SNOMED CT concept]
- Robin's anomalad [MedDRA LLT]
- Robin's syndrome [MedDRA LLT]
- Weissenbacher-Zweymuller syndrome [DO Concept]
- pierre robin syndrome [MeSH Descriptor]
- pierre robin syndrome [MeSH concept]
- robin sequence [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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