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

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Occurrence	Congenital	true	Inferred relationship	Some	1
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A spectrum of diseases with manifestation of overgrowth that results from somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
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