770430000: Autosomal recessive distal spinal muscular atrophy type 3 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3
• \Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3
• \Disorder of body system\Neurological disorder\Neuropathy\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3
• \Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3
• \Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral motor neuropathy\Autosomal recessive distal hereditary motor neuropathy\Autosomal recessive distal spinal muscular atrophy type 3

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3700823019	Autosomal recessive distal spinal muscular atrophy type 3 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3700824013	Autosomal recessive distal spinal muscular atrophy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3700825014	Distal spinal muscular atrophy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
3700826010	A rare neuromuscular disease with characteristics of progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.	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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