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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
14523101000172116 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) Belgian module (core metadata concept)
14523111000172118 syndrome d'hypercroissance lié au gène PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
5104731000172118 PIK3CA-gerelateerd overgroeisyndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
5104741000172113 'phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha'-gerelateerd overgroeisyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
5104751000172110 PROS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 1
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) 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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