Simpson-Golabi-Behmel syndrome

Preferred Label : Simpson-Golabi-Behmel syndrome;

MeSH synonym : simpson dysmorphia syndrome; Golabi-Rosen syndrome; bulldog syndrome; dysplasia gigantism syndrome, X-linked; Simpson-Golabi-Behmel syndrome, type 1; SGBS1; mental Retardation-Overgrowth syndrome; simpson dysplasia syndrome; simpson syndrome;

Details

Origin ID

C537340;

UMLS CUI

C0796154;

Automatic exact mappings (from CISMeF team)
- GPC3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Simpson-Golabi-Behmel Syndrome [NCIt concept]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome [ICD-11 More detail]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome (disorder) [SNOMED CT concept]
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
- Simpson-golabi-behmel syndrome, type 1 [OMIM Phenotype]
DO Cross reference
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
MeSH term(s) associated for indexing
- arrhythmias, cardiac [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- gigantism [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
Record concept(s)
- Simpson-Golabi-Behmel syndrome [MeSH concept]
See also inter- (CISMeF)
- GPC3 wt Allele [NCIt concept]
- glypican 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bulldog syndrome [MedDRA LLT]
- Golabi-Rosen syndrome [MedDRA LLT]
- Simpson Golabi Behmel Syndrome Type 1 [NCIt concept]
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
- Simpson-golabi-behmel syndrome, type 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Simpson Golabi Behmel Syndrome Type 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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