784391002: Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Disorder of body system\Neurological disorder\Chronic nervous system disorder\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Autosomal dominant adult-onset proximal spinal muscular atrophy
• \Chronic disease\Chronic nervous system disorder\Autosomal dominant adult-onset proximal spinal muscular atrophy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3764266015	Autosomal dominant late-onset spinal muscular atrophy Finkel type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3764267012	Autosomal dominant adult-onset proximal spinal muscular atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
3764268019	Finkel disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3764269010	Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3764270011	SMAFK - spinal muscular atrophy Finkel type	en	Synonym	Active	Case sensitive	SNOMED CT core
3764271010	A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13.	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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