721105004: Klippel Trenaunay syndrome (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\...

\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)

\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)

\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Blood vessel finding\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Blood vessel finding\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Disorder of soft tissue\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\General finding of soft tissue (finding)\Disorder of soft tissue\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital anomaly of peripheral blood vessel (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital anomaly of peripheral blood vessel (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital vascular malformation (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)\Klippel Trenaunay syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of skin (disorder)\Port-wine stain of skin (disorder)\Klippel Trenaunay syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

3323527014 Klippel Trenaunay syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klippel Trenaunay syndrome (disorder)	Is a	Port-wine stain of skin (disorder)	true	Inferred relationship	Some
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)	Occurrence	Congenital	true	Inferred relationship	Some	1
Klippel Trenaunay syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Klippel Trenaunay syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	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)	Occurrence	Congenital	true	Inferred relationship	Some	2
Klippel Trenaunay syndrome (disorder)	Finding site	Structure of capillary of skin	true	Inferred relationship	Some	2
Klippel Trenaunay syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323526017	Klippel Trenaunay syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
3323527014	Klippel Trenaunay syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
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)	IPS terminology module (core metadata concept)