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syndroom van progressieve segmentale overgroei met fibroadipeuze hyperplasie (aandoening)
syndroom van progressieve segmentale overgroei met fibroadipeuze hyperplasie
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
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.
Id787094005
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhyperplasie
Finding sitestructuur van bindweefsel
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.3
TermCongenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei
SNOMED CT to Orphanet simple map314662
SNOMED CT to ICD-10 extended map
TargetQ87.3
RuleTRUE
AdviceALWAYS Q87.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified