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717824007: 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)

0 descendants.

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 Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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