723991007: Angio-osteohypertrophic syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

\Congenital anomaly of skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome

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

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

\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Vascular disease of the skin\Cutaneous vascular malformation\Angio-osteohypertrophic syndrome

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3428315011 Angio-osteohypertrophic syndrome en Synonym Active Case insensitive SNOMED CT core

3428316012 Angioosteohypertrophic syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Parkes Weber syndrome	Is a	True	Angio-osteohypertrophic syndrome	Inferred relationship	Some
Klippel Trenaunay syndrome	Is a	True	Angio-osteohypertrophic syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3428314010	Angio-osteohypertrophic syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3428315011	Angio-osteohypertrophic syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3428316012	Angioosteohypertrophic syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core