770727008: Spinal muscular atrophy with respiratory distress type 2 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Respiratory finding\Respiratory disease\Respiratory insufficiency\Respiratory failure\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Lower motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Neurological disorder\Motor neurone disease\Hereditary motor neuron disease\Spinal muscular atrophy\Distal spinal muscular atrophy\Spinal muscular atrophy with respiratory distress type 2
• \Disease\Disorder of body system\Respiratory disease\Respiratory insufficiency\Respiratory failure\Spinal muscular atrophy with respiratory distress type 2

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702269016	SMARD2 - spinal muscular atrophy with respiratory distress type 2	en	Synonym	Active	Case sensitive	SNOMED CT core
3702270015	Spinal muscular atrophy with respiratory distress type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3702271016	Diaphragmatic spinal muscular atrophy type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3702272011	Severe infantile axonal neuropathy with respiratory failure type 2	en	Synonym	Active	Case insensitive	SNOMED CT core
3702273018	Spinal muscular atrophy with respiratory distress type 2 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702275013	X-linked spinal muscular atrophy with respiratory distress	en	Synonym	Active	Case sensitive	SNOMED CT core
3702274012	A rare genetic motor neuron disease with characteristics of progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. The phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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