Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type II
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Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)
COG7 congenital disorder of glycosylation
Congenital disorder of glycosylation type IIe
COG7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIe
Component of oligomeric golgi complex 7 congenital disorder of glycosylation
Congenital disorder of glycosylation type 2e
Syndrome with characteristics of dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. It has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.
onderdeel van oligomeer golgi-complex 7 congenitaal defect in glycosylering
Id717773005
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified