bardet-biedl syndrome

Preferred Label : bardet-biedl syndrome;

MeSH definition : An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8);

MeSH synonym : syndrome, laurence-moon-bardet-biedl; laurence-moon-bardet-biedl syndrome; syndrome, bardet-biedl; laurence moon bardet biedl syndrome; bardet biedl syndrome;

CISMeF synonym : Bardet-Biedl; bardet-biedl's syndrome;

CISMeF acronym : BBS;

MeSH annotation : note entry term: do not confuse with LAURENCE-MOON SYNDROME;

Details

Origin ID

D020788;

UMLS CUI

C0752166;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Bardet Biedl syndrome [Disease (Nov.)]
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome [ICD-11 More detail]
- Bardet-Biedl syndrome [ORDO Disease]
- 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 [SNOMED Notion]
DO Cross reference
- Bardet-Biedl syndrome [DO Concept]
False automatic mappings
- Barbados [NCIt concept]
- Other specified congenital malformation syndromes, not elsewhere classified [ICD-10 Sub-category (who)]
Indexing information
- ARL6 protein, human [MeSH Supplementary Concept]
- BBS-8 protein, C elegans [MeSH Supplementary Concept]
- BBS4 protein, human [MeSH Supplementary Concept]
- BBS5 protein, human [MeSH Supplementary Concept]
- BBS5 protein, mouse [MeSH Supplementary Concept]
- Bbs1 protein, human [MeSH Supplementary Concept]
- Bbs2 protein, human [MeSH Supplementary Concept]
- Bbs7 protein, human [MeSH Supplementary Concept]
- CCDC28B protein, human [MeSH Supplementary Concept]
- TTC8 protein, human [MeSH Supplementary Concept]
- osm-12 protein, C elegans [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Congenital hypogonadotropic hypogonadism [ORDO Disease]
- Genetic obesity [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism [ORDO Disease]
- Renal ciliopathy [ORDO Disease]
- Retinal ciliopathy due to mutation in Bardet-Biedl gene [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic intestinal malformation [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
Ne pas confondre avec
- laurence-moon syndrome [MeSH Descriptor]
ORDO relation(s)
- Bardet-Biedl syndrome [ORDO Disease]
Record concept(s)
- Bardet-Biedl syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Bardet-Biedl syndrome 1 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 10 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 11 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 12 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 13 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 14 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 2 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 3 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 4 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 6 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 7 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 8 [MeSH Supplementary Concept]
- Bardet-Biedl syndrome 9 [MeSH Supplementary Concept]
See also
- intellectual disability [MeSH Descriptor]
- obesity due to Bardet-Biedl Syndrome [Indication]
See also inter- (CISMeF)
- Laurence Moon syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bardet-Biedl Syndrome [NCIt concept]
- Bardet-Biedl syndrome [ORDO Disease]
- Bardet-Biedl syndrome [MedDRA LLT]
- Bardet-Biedl syndrome [DO Concept]
- Bardet-Biedl syndrome (disorder) [SNOMED CT concept]
- Laurence-Moon-Bardet-Biedl syndrome [MedDRA Preferred Term]
- bardet-biedl syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Bardet-biedl syndrome 1 [OMIM Phenotype]
- Laurence-Moon syndrome [ICD-11 More detail]

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