| 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 very rare syndrome with characteristics of unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. It has been described in 7 patients. Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. |
| | 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 | Q33.3 | | Rule | TRUE | | Advice | ALWAYS Q33.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q24.9 | | Rule | TRUE | | Advice | ALWAYS Q24.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | Q74.0 | | Rule | TRUE | | Advice | ALWAYS Q74.0 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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