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Autosomal recessive primary microcephaly (disorder)
Autosomal recessive primary microcephaly
True microcephaly
Microcephalia vera
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Id715981004
StatusPrimitive
Associated morphologyAbnormal smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
SNOMED CT to ICD-10 extended map
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified