| syndroom van tetralogie van Fallot, verstandelijke beperking en groeiachterstand (aandoening) | | syndroom van tetralogie van Fallot, verstandelijke beperking en groeiachterstand | | syndroom van Bindewald-Ulmer-Müller
syndroom van tetralogie van Fallot, mentale retardatie en groeiachterstand
| | Fallot complex with intellectual disability and growth delay syndrome | | Bindewald Ulmer Muller syndrome
| | A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait. |
| | Id | 723336008 | | 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 | 3304 |
| 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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