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)\Angio-osteohypertrophic syndrome (disorder)

\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)
\General finding of soft tissue (finding)\Blood vessel finding\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic 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)
\General finding of soft tissue (finding)\Disorder of soft tissue\Vascular disorder\Congenital 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)\Angio-osteohypertrophic syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic syndrome (disorder)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of skin (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)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Congenital 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)\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)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of peripheral blood vessel (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital vascular malformation (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Angio-osteohypertrophic syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of skin (disorder)\Angio-osteohypertrophic 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

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

3428315011 Angio-osteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3428316012 Angioosteohypertrophic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

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) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Angio-osteohypertrophic syndrome (disorder)	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Some
Angio-osteohypertrophic syndrome (disorder)	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Angio-osteohypertrophic syndrome (disorder)	Is a	Congenital vascular malformation (disorder)	true	Inferred relationship	Some
Angio-osteohypertrophic syndrome (disorder)	Is a	Congenital anomaly of peripheral blood vessel (disorder)	true	Inferred relationship	Some
Angio-osteohypertrophic syndrome (disorder)	Is a	Disorder of bone (disorder)	true	Inferred relationship	Some
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Angio-osteohypertrophic syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Angio-osteohypertrophic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	1
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Finding site	Peripheral vascular system structure	true	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	2
Angio-osteohypertrophic syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Angio-osteohypertrophic syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Angio-osteohypertrophic syndrome (disorder)	Finding site	Blood vessel structure (body structure)	true	Inferred relationship	Some	3
Angio-osteohypertrophic syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Some	3
Angio-osteohypertrophic syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	4

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3428314010	Angio-osteohypertrophic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
3428315011	Angio-osteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
3428316012	Angioosteohypertrophic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
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)	IPS terminology module (core metadata concept)