| syndroom van verstandelijke beperking, kaalheid, luxatie van patella en acromicrie (aandoening) | | syndroom van verstandelijke beperking, kaalheid, luxatie van patella en acromicrie | | syndroom van mentale retardatie, kaalheid, luxatie van patella en acromicrie
syndroom van verstandelijke handicap, kaalheid, luxatie van patella en acromicrie
syndroom van Scholte-Begeer-van Essen
| | Scholte syndrome | | Scholte Begeer-van Essen syndrome
Intellectual disability, balding, patella luxation, acromicria syndrome
| | Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. |
| | Id | 722002002 | | 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 | 3041 |
| 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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