| syndroom van kleine gestalte, hartklepaandoening en kenmerkend aangezicht (aandoening) | | syndroom van kleine gestalte, hartklepaandoening en kenmerkend aangezicht | | syndroom van kleine gestalte, hartklepaandoening en kenmerkende gelaatstrekken
| | Short stature with valvular heart disease and characteristic facies syndrome | | Short stature-valvular heart disease-characteristic facies syndrome is characterized by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. |
| | Id | 716193004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.1 | | Term | Congenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte |
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| SNOMED CT to Orphanet simple map | 2868 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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