Agenesis of pancreas
Genetic disease
Holoprosencephaly sequence
Multiple system malformation syndrome
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Pancreatic agenesis, holoprosencephaly syndrome (disorder)
Pancreatic agenesis, holoprosencephaly syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability, dysmorphic craniofacial features and agenesis of the gallbladder.
Id1222660008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteEntire pancreas
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ04.2
RuleTRUE
AdviceALWAYS Q04.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified