717920004: Blindness, scoliosis, arachnodactyly syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Blindness, scoliosis, arachnodactyly syndrome
• \Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of vision\Visual disturbance\Blindness AND/OR vision impairment level\Blindness, scoliosis, arachnodactyly syndrome
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Blindness, scoliosis, arachnodactyly syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3324399014	Blindness, scoliosis, arachnodactyly syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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