Bardet-Biedl Syndrome

Preferred Label : Bardet-Biedl Syndrome;

NCIt synonyms : BBS;

NCIt related terms : Laurence-Moon Syndrome; Laurence-Moon-Bardet-Biedl Syndrome; Laurence-Moon-Biedl Syndrome;

NCIt definition : An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.;

Alternative definition : NICHD: A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia.;

Details

Origin ID

C118632;

UMLS CUI

C0752166;

Automatic exact mappings (from CISMeF team)
- Nijmegen breakage syndrome [OMIM Phenotype]
- Sarcoidosis [ORDO Disease]
- sarcoidosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Bardet Biedl syndrome [Disease (Nov.)]
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome [MeSH concept]
- Bardet-Biedl syndrome [MedDRA LLT]
- Bardet-Biedl syndrome [ICD-11 More detail]
- 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 [PASCAL descriptor]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- Laurence-moon syndrome [OMIM Phenotype]
- bardet-biedl syndrome [MeSH Descriptor]
- bardet-biedl syndrome [SNOMED Notion]
DO Cross reference
- Bardet-Biedl syndrome [DO Concept]
False automatic mappings
- Bounded by (attribute) [SNOMED CT concept]
See also inter- (CISMeF)
- Bardet-Biedl syndrome 2 [ORDO Gene]
- Laurence Moon syndrome [Disease (Nov.)]
- Laurence-Moon syndrome [MeSH concept]
- Laurence-Moon syndrome [DO Concept]
- Laurence-Moon syndrome [ORDO Disease]
- laurence-moon syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome [MedDRA LLT]
- Bardet-Biedl syndrome [MeSH concept]
- Bardet-Biedl syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- bardet-biedl syndrome [SNOMED Notion]
- bardet-biedl syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Bardet-biedl syndrome 1 [OMIM Phenotype]
- Laurence-Moon syndrome [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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