| syndroom van longagenesie, hartdefect en afwijking van digiti I (aandoening) | | syndroom van longagenesie, hartdefect en afwijking van digiti I | | syndroom van longagenesie, hartdefect en duimanomalieën
syndroom van pulmonale agenesie, hartdefect en anomalieën van duim
syndroom van Mardini-Nyhan
| | Lung agenesis with heart defect and thumb anomaly syndrome | | Mardini Nyhan syndrome
| | A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
| | Id | 721976003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q33.3 | | Term | Longagenesie |
| Target | Q24.9 | | Term | Congenitale misvorming van hart, niet gespecificeerd |
| Target | Q74.0 | | Term | Overige congenitale misvormingen van bovenste extremiteit(en), inclusief schoudergordel |
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| SNOMED CT to Orphanet simple map | 1120 |
| 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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