| X-gebonden syndroom van verstandelijke beperking, cubitus valgus en dysmorfie (aandoening) | | X-gebonden syndroom van verstandelijke beperking, cubitus valgus en dysmorfie | | X-gebonden syndroom van mentale retardatie, cubitus valgus en dysmorfie
X-gebonden syndroom van verstandelijke handicap, cubitus valgus en dysmorfie
| | X-linked intellectual disability with cubitus valgus and dysmorphism syndrome | | X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. |
| | Id | 719138006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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 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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