| syndroom van pancreashypoplasie, diabetes mellitus en congenitale misvorming van hart (aandoening) | | syndroom van pancreashypoplasie, diabetes mellitus en congenitale misvorming van hart | | syndroom van hypoplasie van pancreas, diabetes mellitus en congenitale hartaandoening
syndroom van pancreashypoplasie, diabetes mellitus en congenitale hartafwijking
| | Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome | | Yorifuji Okuno syndrome
| | This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. |
| | Id | 722206009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 2255 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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