Congenital microcephaly
Global developmental delay
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
Short stature disorder
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Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome (disorder)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome
A rare genetic syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomalies (for example autistic behavior, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22.
syndroom van verstandelijke beperking, voedingsproblemen, ontwikkelingsachterstand en microcefalie
syndroom van mentale retardatie, voedingsproblemen, ontwikkelingsachterstand en microcefalie
Id773552008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsHeight / growth measure
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