congenitale microcefalie
congenitale radio-ulnaire synostose
genetische verstandelijke beperking
kleine gestalte
polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
scoliose
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syndroom van radio-ulnaire synostose met microcefalie en scoliose (aandoening)
syndroom van radio-ulnaire synostose met microcefalie en scoliose
syndroom van Giuffrè-Tsukahara
Tsukahara-syndroom
syndroom van Tsukahara
Giuffrè-Tsukahara-syndroom
Radioulnar synostosis with microcephaly and scoliosis syndrome
Tsukahara syndrome
Giuffre Tsukahara syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
Id719162001
StatusPrimitive
Associated morphologyafwijkende laterale kromming
Finding sitemusculoskeletale structuur van wervelkolom
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal gefuseerde structuur
Finding sitebotstructuur van radius
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyabnormaal gefuseerde structuur
Finding sitebotstructuur van ulna
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsmeetbare observatie betreffende lengte en/of groei
Has interpretationonder referentiebereik
Interpretshoofdomtrek bij geboorte
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map3268
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified