Branchio-oto-renal syndrome

Preferred Label : Branchio-oto-renal syndrome;

ICD-11 definition : Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).;

ICD-11 synonym : BOR syndrome; BOR - [Branchio-oto-renal] syndrome;

Détails

Origin ID

504227287;

UMLS CUI

C0265234;

Automatic exact mappings (from CISMeF team)
- Borries' syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchiootorenal syndrome [MedDRA LLT]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome [PASCAL descriptor]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]
See also inter- (CISMeF)
- BOR syndrome [ORDO Disease]
- Branchiooculofacial syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- BOR syndrome [ORDO Disease]
- Branchio-Oto-Renal syndrome [MeSH concept]
- Branchio-oto-renal syndrome [MedDRA Preferred Term]
- Branchiootorenal syndrome [MedDRA LLT]
- Melnick-Fraser Syndrome [NCIt concept]
- Melnick-Fraser syndrome (disorder) [SNOMED CT concept]
- branchio oto renal syndrome [Disease (Nov.)]
- branchio-oto-renal syndrome [MeSH Descriptor]
- branchiootorenal syndrome [DO Concept]
- melnick-fraser syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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