| 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
| | 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. |
| | Id | 770727008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G12.2 | | Term | Ziekte van motorische neuronen |
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| 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 |
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