| syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen (aandoening) | | syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen | | syndroom van focomelie, trombocytopenie, encefalokèle en urogenitale misvormingen
syndroom van von Voss-Cherstvoy
DK-focomeliesyndroom
| | DK phocomelia syndrome | | Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
Von Voss-Cherstvoy syndrome
| | A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance. |
| | Id | 719021005 | | 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 | 3439 |
| 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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