syndroom van pericard- en diafragmadefect (aandoening) | | syndroom van pericard- en diafragmadefect | | syndroom van pericardiaal en diafragmatisch defect
| | Pericardial and diaphragmatic defect syndrome | | Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. It has been reported in less than 20 patients. The absence of pericardic tissue is complete or partial. The diaphragmatic hernia is most often left-sided. Some patients have additional digestive tract malformations. The few reported cases were all sporadic except in a family in which the recurrence of these anomalies in two siblings and the parental consanguinity suggested an autosomal recessive inheritance. |
| Id | 724068001 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | Q24.8 | Term | Overige gespecificeerde congenitale misvormingen van hart |
Target | Q79.0 | Term | Congenitale hernia diaphragmatica |
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SNOMED CT to Orphanet simple map | 2847 |
SNOMED CT to ICD-10 extended map | Target | Q24.8 | Rule | TRUE | Advice | ALWAYS Q24.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | Q79.0 | Rule | TRUE | Advice | ALWAYS Q79.0 | Correlation | SNOMED CT source code to target map code correlation not specified |
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