chronisch respiratoir falen	distale spinale spieratrofie	X-gebonden hereditaire distale motorische neuropathie
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spinale spieratrofie met respiratoire insufficiëntie type 2 (aandoening)
	spinale spieratrofie met respiratoire insufficiëntie type 2
	X-gebonden spinale musculaire atrofie met respiratoire insufficiëntie diafragmatische spinale spieratrofie type 2 spinale musculaire atrofie met ademhalingsinsufficiëntie type 2 SMARD2
	Spinal muscular atrophy with respiratory distress type 2
	Severe infantile axonal neuropathy with respiratory failure type 2 X-linked spinal muscular atrophy with respiratory distress Diaphragmatic spinal muscular atrophy type 2 SMARD2 - spinal muscular atrophy with respiratory distress type 2
	Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene.

Id	770727008
Status	Primitive

Finding site

structuur van ademhalingsstelsel

Finding site

structuur van perifeer zenuwstelsel

Finding site

structuur van zenuw

Clinical course

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	G12.2
Term	Ziekte van motorische neuronen

SNOMED CT to Orphanet simple map

404521

SNOMED CT to ICD-10 extended map

Target	G12.2
Rule	TRUE
Advice	ALWAYS G12.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified