Bardet-Biedl syndrome

Preferred Label : Bardet-Biedl syndrome;

ICD-11 definition : Bardet-Biedl syndrome is a ciliopathy with multisystem involvement that is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset.;

ICD-11 synonym : BBS - [Bardet-Biedl syndrome];

ICD-11 acronym : BBS;

Details

Origin ID

255526264;

Automatic exact mappings (from CISMeF team)
- Sarcoidosis [ORDO Disease]
- sarcoidosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bardet Biedl syndrome [Disease (Nov.)]
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [MeSH concept]
- Bardet-Biedl syndrome [MedDRA LLT]
- Bardet-Biedl syndrome (disorder) [SNOMED CT concept]
- Bardet-biedl syndrome [OMIM phenotypic series]
- Laurence-Moon syndrome [MedDRA LLT]
- Laurence-Moon syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- Laurence-Moon-Bardet-Biedl syndrome [PASCAL descriptor]
- Laurence-moon syndrome [OMIM Phenotype]
- bardet-biedl syndrome [MeSH Descriptor]
- bardet-biedl syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Bardet-Biedl syndrome 2 [ORDO Gene]
- Bardet-biedl syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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