| syndroom van lymfoedeem, atriumseptumdefect en veranderingen in aangezicht (aandoening) | | syndroom van lymfoedeem, atriumseptumdefect en veranderingen in aangezicht | | syndroom van Irons-Bhan
syndroom van lymfoedeem, atriumseptumdefect en veranderingen in gelaat
syndroom van Irons-Bianchi
| | Lymphedema, atrial septal defect, facial changes syndrome | | Irons Bianchi syndrome
| | This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. |
| | Id | 721978002 | | 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 | 86915 |
| 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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