Pierre robin syndrome

Preferred Label : Pierre robin syndrome;

Symbol : PRBNS;

CISMeF acronym : PRBNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pierre robin sequence; Glossoptosis, micrognathia, and cleft palate;

Inheritance : Autosomal recessive; also an X-linked form and associated with trisomy 18 and other syndromes;

Prefixed ID : %261800;

Details

Origin ID

261800;

UMLS CUI

C0031900;

Currated CISMeF NLP mapping
- Pierre Robin Syndrome [NCIt concept]
- Pierre Robin syndrome [PASCAL descriptor]
- Pierre Robin syndrome [ICD-11 Category]
- Pierre Robin syndrome [MedDRA LLT]
- Pierre Robin syndrome [MedDRA Preferred Term]
- 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]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Cor pulmonale [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Glossoptosis [HPO term]
- Micrognathia [HPO term]
- Neonatal respiratory distress [HPO term]
- Pierre-Robin sequence [HPO term]
- Upper airway obstruction [HPO term]
ORDO concept(s)
- Isolated Pierre Robin syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated Pierre Robin syndrome [ORDO Disease]
- Pierre Robin Syndrome [NCIt concept]
- Pierre Robin syndrome [MedDRA Preferred Term]
- Pierre Robin syndrome [PASCAL descriptor]
- Pierre Robin syndrome [MedDRA LLT]
- 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]

Keyword's position in hierarchy(ies) :

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