congenitale radio-ulnaire synostose
polymalformatief syndroom met defect van aangezicht en extremiteit als voornaamst kenmerk
verstandelijke beperking
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syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie (aandoening)
syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en hypotonie
syndroom van Der Kaloustian-McIntosh-Silver
syndroom van radio-ulnaire synostose met ontwikkelingsachterstand en verminderde spiertonus
Der Kaloustian-McIntosh-Silver-syndroom
Radioulnar synostosis with developmental delay and hypotonia syndrome
Der Kaloustian McIntosh Silver syndrome
An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).
Id721883006
StatusPrimitive
Associated morphologyAbnormally fused structure
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyAbnormally fused structure
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van aangezicht
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 map3270
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