| transthyretine-amyloïde cardiomyopathie (aandoening) | | transthyretine-amyloïde cardiomyopathie | | ATTR-CM
ATTR-cardiomyopathie
| | Transthyretin related familial amyloid cardiomyopathy | | ATTRV122I amyloidosis
Transthyretin amyloid cardiopathy
| | Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E85.4 | | Term | Amyloïdose beperkt tot orgaan |
| Target | I43.1* | | Term | Cardiomyopathie bij stofwisselingsstoornissen |
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| SNOMED CT to Orphanet simple map | 85451 |
| SNOMED CT to ICD-10 extended map | | Target | E85.4 | | Rule | TRUE | | Advice | ALWAYS E85.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | I43.1 | | Rule | TRUE | | Advice | ALWAYS I43.1 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE | | Correlation | SNOMED CT source code to target map code correlation not specified |
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