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721105004: Klippel Trenaunay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323526017 Klippel Trenaunay syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323527014 Klippel Trenaunay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323530019 A syndrome affecting the development of blood vessels, soft tissue and bone with three characteristic features: port-wine stain, abnormal overgrowth of soft tissues and bones and venous malformations. Caused by mutations in the PIK3CA gene. This gene provides instructions for making the p110 alpha (p110α) protein, which is a subunit of phosphatidylinositol 3-kinase (PI3K). The PIK3CA gene mutations associated with Klippel-Trenaunay syndrome alter the p110α protein. The altered subunit makes PI3K abnormally active, which allows cells to grow and divide continuously. Increased cell proliferation leads to abnormal growth of the bones, soft tissues, and blood vessels. This syndrome is almost always sporadic meaning it can occur in people with no history of the disorder in their family. Studies suggest that the condition results from gene mutations that are not inherited. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
11414231000172114 Klippel-Trenaunay, d'origine congénitale fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
12309291000172115 syndrome de Klippel-Trenaunay fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
2192911000172118 Klippel Trenaunay-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
2192931000172114 Klippel-Trenaunay-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
10847891000172114 congenitale Klippel-Trenaunay nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Klippel Trenaunay syndrome (disorder) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Is a Multiple malformation syndrome with early overgrowth false Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Is a Port-wine stain of skin (disorder) true Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) Finding site Structure of capillary of skin false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) Finding site Bone structure true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) Is a Angio-osteohypertrophic syndrome (disorder) true Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) Finding site Structure of capillary of skin true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records

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