717920004: Blindness, scoliosis, arachnodactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision (disorder)\Visual disturbance (disorder)\Blindness AND/OR vision impairment level\Blindness, scoliosis, arachnodactyly syndrome (disorder)
• \Disease\Disorder of connective tissue\Connective tissue hereditary disorder\Blindness, scoliosis, arachnodactyly 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
3324398018	Blindness, scoliosis, arachnodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324399014	Blindness, scoliosis, arachnodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401639011	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324398018	Blindness, scoliosis, arachnodactyly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324398018	Blindness, scoliosis, arachnodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324399014	Blindness, scoliosis, arachnodactyly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324399014	Blindness, scoliosis, arachnodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324400019	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. The syndrome has been described in four patients (three males and one female) from the same family. The male patients presented with the complete phenotype while the female patient suffered only from blindness. No mutations were found in the FBN1, TGFBR1 and TGFBR2 genes that are associated with other syndromes presenting similar clinical findings.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401639011	This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3446151001000117	Blindheit-Skoliose-Arachnodaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5796291000241119	syndrome de cécité, scoliose et arachnodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5796291000241119	syndrome de cécité, scoliose et arachnodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3446151001000117	Blindheit-Skoliose-Arachnodaktylie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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