787094005: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
• \Disorder of connective tissue (disorder)\Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
• \Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
• \Chronic disease\Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3773934010	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773935011	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3773936012	A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4572651000172119	syndroom van progressieve segmentale overgroei met fibroadipeuze hyperplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

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