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737037004: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3526324017 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3526325016 PROS - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth spectrum en Synonym Active Case sensitive SNOMED CT core
3526326015 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome en Synonym Active Case insensitive SNOMED CT core
3526327012 PIK3CA related overgrowth syndrome en Synonym Active Case sensitive SNOMED CT core
3526328019 A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
PIK3CA related overgrowth syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
PIK3CA related overgrowth syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
PIK3CA related overgrowth syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
PIK3CA related overgrowth syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
PIK3CA related overgrowth syndrome Occurrence Congenital true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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