Autosomal recessive hereditary disorder
Congenital dyserythropoietic anemia
Cytochrome-c oxidase deficiency
Developmental hereditary disorder
Digestive system hereditary disorder
Dysostosis of bone of skull
Exocrine pancreatic insufficiency
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Metabolic bone disease
||||||||||
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. It has been described in four children, three boys and one girl, from two consanguineous families. The disease is due to a mutation in the COX4I2 gene, encoding a mitochondrial cytochrome C oxidase sub-unit. Transmission is autosomal recessive.
syndroom van pancreasinsufficiëntie, dyserytropoëtische anemie en hyperostose van calvaria
Id722207000
StatusPrimitive
Due toDecreased erythrocyte production
Finding siteErythrocyte
Associated morphologyDysplasia
Finding siteBone structure of cranium
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsRed blood cell count
Has interpretationBelow reference range
InterpretsMeasurement of total hemoglobin concentration
Finding siteStructure of exocrine pancreas
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteStructure of vault of skull
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetK86.8
RuleTRUE
AdviceALWAYS K86.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD64.4
RuleTRUE
AdviceALWAYS D64.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified