| syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem (aandoening) | | syndroom van hypoplasie van radius, trifalangeale digitus I, hypospadie en maxillair diasteem | | syndroom van Schmitt-Gillenwater-Kelly
syndroom van hypoplasie van radius, trifalangeale duim, hypospadie en maxillair diasteem
| | Schmitt Gillenwater Kelly syndrome | | Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome
| | This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
| | Id | 716092007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.2 | | Term | Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten |
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| SNOMED CT to Orphanet simple map | 2252 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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