Simpson-Golabi-Behmel Syndrome

Preferred Label : Simpson-Golabi-Behmel Syndrome;

NCIt related terms : Simpson Dysmorphia Syndrome;

NCIt definition : An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities.;

NCI Metathesaurus CUI : CL513991;

Details

Origin ID

C131002;

UMLS CUI

C4317043;

Automatic exact mappings (from CISMeF team)
- Simpson-Golabi-Behmel syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Simpson-Golabi-Behmel syndrome [ORDO Disease]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [PASCAL descriptor]
- Simpson-Golabi-Behmel syndrome [MeSH concept]
- Simpson-Golabi-Behmel syndrome [ICD-11 More detail]
- Simpson-Golabi-Behmel syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Simpson-Golabi-Behmel syndrome [MedDRA Preferred Term]
- Simpson-Golabi-Behmel syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Simpson-Golabi-Behmel syndrome type 1 [DO Concept]
- Simpson-golabi-behmel syndrome, type 1 [OMIM Phenotype]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- GPC3 Gene [NCIt concept]
- GPC4 Gene [NCIt concept]
- OFD1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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