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 |
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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