| X-gebonden verstandelijke beperking en craniofacioskeletaal syndroom (aandoening) | | X-gebonden verstandelijke beperking en craniofacioskeletaal syndroom | | X-gebonden verstandelijke handicap en craniofacioskeletaal syndroom
X-gebonden mentale retardatie en craniofacioskeletaal syndroom
| | X-linked intellectual disability, craniofacioskeletal syndrome | | A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
| | Id | 773274001 | | 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 | 163979 |
| 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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