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


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323635016 Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3323636015 Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome en Synonym Active Case insensitive SNOMED CT core
3323637012 Grange syndrome en Synonym Active Case sensitive SNOMED CT core
3323638019 Grange occlusive arterial syndrome en Synonym Active Case sensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Grange syndrome Is a Inherited disorder of connective tissue true Inferred relationship Some
Grange syndrome Is a Hereditary dysplasia of blood vessel true Inferred relationship Some
Grange syndrome Finding site Connective tissue structure true Inferred relationship Some 1
Grange syndrome Finding site Blood vessel structure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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