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721105004: Klippel Trenaunay syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3323527014 Klippel Trenaunay syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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