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pseudoaminopterinesyndroom (aandoening)
pseudoaminopterinesyndroom
aminopterinesyndroom sine aminopterine
ASSA
foetaal syndroom gelijkend op aminopterinesyndroom zonder blootstelling aan aminopterine
aminopterinesyndroom zonder aminopterine
Pseudoaminopterin syndrome
Aminopterin syndrome-like sine aminopterin
A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly and clinodactyly. Also associated with mild-to-moderate intellectual deficit and short stature.
Id715867000
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.5
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map221120
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified