| syndroom van hypotelorisme, palatoschisis en hypospadie (aandoening) | | syndroom van hypotelorisme, palatoschisis en hypospadie | | syndroom van Schilbach-Rott
syndroom van hypotelorisme, gespleten gehemelte en hypospadie
| | Schilbach Rott syndrome | | Hypotelorism, cleft palate, hypospadias syndrome
| | An autosomal dominant dysmorphic disorder with characteristics hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males. Transmission is autosomal dominant with variable expressivity. |
| | Id | 721902002 | | 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 | 2353 |
| 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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