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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Klippel Trenaunay syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) localisation d'une constatation (attribut) Structure of capillary of skin true Inferred relationship Some 1
Klippel Trenaunay syndrome (disorder) survenue (attribut) congénital 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
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone false Inferred relationship Some
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with early overgrowth (disorder) false Inferred relationship Some
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) naevus flammeus true Inferred relationship Some
Klippel Trenaunay syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) localisation d'une constatation (attribut) Structure of capillary of skin false Inferred relationship Some 3
Klippel Trenaunay syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 2
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) Angio-osteohypertrophic syndrome (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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