770727008: amyotrophie spinale avec détresse respiratoire type 2 (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Respiratory finding\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Peripheral motor neuropathy\X-linked distal hereditary motor neuropathy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Lower motor neuron disease\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\maladie du motoneurone (trouble)\Hereditary motor neuron disease (disorder)\atrophie musculaire spinale (trouble)\Distal spinal muscular atrophy\amyotrophie spinale avec détresse respiratoire type 2
• \Disease\affection d'un système corporel\Disorder of respiratory system (disorder)\Respiratory insufficiency (disorder)\Respiratory failure (disorder)\amyotrophie spinale avec détresse respiratoire type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1012671000172110	amyotrophie spinale avec détresse respiratoire type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3702269016	SMARD2 - spinal muscular atrophy with respiratory distress type 2	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702270015	Spinal muscular atrophy with respiratory distress type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702271016	Diaphragmatic spinal muscular atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702272011	Severe infantile axonal neuropathy with respiratory failure type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702273018	Spinal muscular atrophy with respiratory distress type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702275013	X-linked spinal muscular atrophy with respiratory distress	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
769801000241117	amyotrophie spinale avec détresse respiratoire type 2 (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
946021000172118	amyotrophie spinale diaphragmatique type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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