| syndroom van familiaire scafocefalie McGillivray-type (aandoening) | | syndroom van familiaire scafocefalie McGillivray-type | | syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke handicap
syndroom van scafocefalie, macrocefalie, maxillaire retrusie en mentale retardatie
syndroom van scafocefalie, macrocefalie, maxillaire retrusie en verstandelijke beperking
| | Familial scaphocephaly syndrome McGillivray type | | Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome
| | A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2. |
| | Id | 725030006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 168624 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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