723991007: Angio-osteohypertrophic 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)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic 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)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic 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)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Congenital vascular disorder\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of blood vessel (disorder)\Vascular disease of the skin\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of peripheral blood vessel\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital vascular malformation (disorder)\Cutaneous vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3428314010 Angio-osteohypertrophic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428315011 Angio-osteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428316012 Angioosteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403179011 A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403180014 A congenital vascular bone syndrome (CVBS) characterised by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3428314010 Angio-osteohypertrophic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428315011 Angio-osteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428316012 Angioosteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3428317015 A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403179011 A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403180014 A congenital vascular bone syndrome (CVBS) characterised by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3440231001000115 Angio-osteo-hypertrophisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

907851000172113 syndrome de Klippel-Trénaunay-Weber fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967871000172117 syndrome angio-ostéo-hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

907851000172113 syndrome de Klippel-Trénaunay-Weber fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967871000172117 syndrome angio-ostéo-hypertrophique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3440231001000115 Angio-osteo-hypertrophisches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Angio-osteohypertrophic syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Angio-osteohypertrophic syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Angio-osteohypertrophic syndrome (disorder)	Is a	Cutaneous vascular malformation (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Angio-osteohypertrophic syndrome (disorder)	Finding site	Blood vessel structure of skin (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Angio-osteohypertrophic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Angio-osteohypertrophic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Angio-osteohypertrophic syndrome (disorder)	Finding site	Blood vessel structure of skin (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Parkes Weber syndrome	Is a	True	Angio-osteohypertrophic syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Klippel Trenaunay syndrome	Is a	True	Angio-osteohypertrophic syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3428314010	Angio-osteohypertrophic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428315011	Angio-osteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428316012	Angioosteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403179011	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403180014	A congenital vascular bone syndrome (CVBS) characterised by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428314010	Angio-osteohypertrophic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428315011	Angio-osteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428316012	Angioosteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428317015	A congenital vascular bone syndrome with the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. The affected limb may show overgrowth in comparison with the contralateral limb and the extent of this limb length discrepancy may vary from a slight difference to 10cm or more. The growth effect may be manifested in only one bone (mainly the femur or tibia) or, in some cases, affect the whole limb. The existence of arteriovenous fistulas around or inside the bone is now being widely accepted as the main cause of bone overgrowth. Although the syndrome generally appears to be sporadic, autosomal dominant inheritance has been noted in a few families.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403179011	A congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403180014	A congenital vascular bone syndrome (CVBS) characterised by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3440231001000115	Angio-osteo-hypertrophisches Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
907851000172113	syndrome de Klippel-Trénaunay-Weber	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967871000172117	syndrome angio-ostéo-hypertrophique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
907851000172113	syndrome de Klippel-Trénaunay-Weber	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
967871000172117	syndrome angio-ostéo-hypertrophique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3440231001000115	Angio-osteo-hypertrophisches Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module