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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3526325016 PROS - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3526326015 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3526327012 PIK3CA related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3526324017 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3526325016 PROS - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth spectrum en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3526326015 Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3526327012 PIK3CA related overgrowth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
6466021000241116 syndrome d'hypercroissance lié au gène phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6466031000241119 syndrome d'hypercroissance lié au gène PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6466021000241116 syndrome d'hypercroissance lié au gène phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6466031000241119 syndrome d'hypercroissance lié au gène PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
PIK3CA related overgrowth syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Existential restriction modifier (core metadata concept)
PIK3CA related overgrowth syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
PIK3CA related overgrowth syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
PIK3CA related overgrowth syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
PIK3CA related overgrowth syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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