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Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder)
Arachnodactyly and intellectual disability with facial dysmorphism syndrome
De Die, Smulders, Vles, Fryns syndrome
This syndrome has characteristics of moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes and hypoplastic external genitalia. It has been described in three patients.
syndroom van arachnodactylie en verstandelijke beperking met faciale dysmorfie
syndroom van spinnenkopvingers en verstandelijke beperking met faciale dysmorfie
De Die-Smulders-Vles-Fryns-syndroom
syndroom van De Die-Smulders-Vles-Fryns
Id720502000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally long and slender growth
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified