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Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome
Yorifuji Okuno syndrome
This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait.
syndroom van pancreashypoplasie, diabetes mellitus en congenitale misvorming van hart
syndroom van pancreashypoplasie, diabetes mellitus en congenitale hartafwijking
syndroom van hypoplasie van pancreas, diabetes mellitus en congenitale hartaandoening
Id722206009
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyHypoplasia
Finding sitePancreas part
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