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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
This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
Id722002002
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map3041
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified