Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome

Preferred Label : Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Abnormalities Syndrome;

NCIt synonyms : CLOVE Syndrome; CLOVES Syndrome; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi Syndrome;

NCIt definition : A disorder caused by mutation(s) in the PIK3CA gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform. It is characterized by mixed capillary, lymphatic, venous, and arteriovenous vascular malformations, segmental progressive overgrowth of subcutaneous, muscular, and visceral fibroadipose tissue with skeletal overgrowth.;

Details

Origin ID

C177122;

UMLS CUI

C2752042;

Currated CISMeF NLP mapping
- CLOVE syndrome [ICD-11 More detail]
- CLOVES syndrome [MedDRA Preferred Term]
- CLOVES syndrome [MedDRA LLT]
- CLOVES syndrome [ORDO Disease]
- CLOVES syndrome [DO Concept]
- Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [OMIM Phenotype]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLOVE syndrome [ICD-11 More detail]
- CLOVES syndrome [MedDRA LLT]
- CLOVES syndrome [MedDRA Preferred Term]
- Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) [SNOMED CT concept]
- Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [OMIM Phenotype]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH Supplementary Concept]
- congenital lipomatous overgrowth, vascular malformations, and epidermal nevi [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PIK3CA Gene [NCIt concept]
related_to_genetic_biomarker
- PIK3CA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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