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'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha'-gerelateerd overgroeisyndroom (aandoening)
PIK3CA-gerelateerd overgroeisyndroom
'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha'-gerelateerd overgroeisyndroom
PROS
PIK3CA related overgrowth syndrome
PROS - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth spectrum
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.
Id737037004
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 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