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Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)
Microcephaly, seizure, intellectual disability, heart disease syndrome
This syndrome has characteristics of intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures and skeletal anomalies. It has been described in two males.
syndroom van microcefalie, epileptische aanval, verstandelijke beperking en hartziekte
syndroom van microcefalie, convulsie, mentale retardatie en cardiopathie
syndroom van microcefalie, insult, mentale retardatie en cardiopathie
Id723304001
StatusPrimitive
Finding siteBrain structure
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
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