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Pseudoaminopterin syndrome (disorder)
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.
pseudoaminopterinesyndroom
ASSA
foetaal syndroom gelijkend op aminopterinesyndroom zonder blootstelling aan aminopterine
aminopterinesyndroom zonder aminopterine
aminopterinesyndroom sine aminopterine
Id715867000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteLimb structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified