Autosomal recessive hereditary disorder
Congenital microcephaly
Developmental hereditary disorder
Dysostosis
Hereditary disorder of musculoskeletal system
Intellectual disability
Multiple malformation syndrome with facial-limb defects as major feature
Syndactyly
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Filippi syndrome (disorder)
Filippi syndrome
Type 1 syndactyly, microcephaly, intellectual disability syndrome
Filippi syndrome has manifestations of microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly and teeth and hair anomalies may also be present. Transmission is autosomal recessive.
syndroom van syndactylie type 1, microcefalie en verstandelijke beperking
syndroom van syndactylie type 1, microcefalie en verstandelijke handicap
syndroom van Filippi
syndroom van syndactylie type 1, microcefalie en mentale retardatie
Id720954000
StatusPrimitive
Associated morphologyCongenital abnormal fusion
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBirth head circumference
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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