717824007: Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)

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

\General finding of soft tissue\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Hereditary dysplasia of blood vessel (disorder)\Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3323635016	Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3323636015	Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3323637012	Grange syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3323638019	Grange occlusive arterial syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3323639010	Grange syndrome has characteristics of stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. So far, the syndrome has been reported in six patients from three families. Congenital heart defects were also reported in some cases. The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
2193221000172113	"syndrome d'occlusion artérielle progressive avec hypertension, malformations cardiaques, fragilité osseuse et brachysyndactylie"	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2193191000172116	Grange-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2193201000172118	syndroom van Grange	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2193211000172115	"syndroom van progressieve arteriële occlusieve ziekte, hypertensie, hartdefect, botfragiliteit en brachysyndactylie"	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2193231000172111	Grange occlusief arterieel syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)	Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	true	Inferred relationship	Some
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)	Is a	Hereditary dysplasia of blood vessel (disorder)	true	Inferred relationship	Some
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)	Finding site	Connective tissue structure	true	Inferred relationship	Some	1
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)	Finding site	Blood vessel structure (body structure)	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets

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