autosomaal recessieve hereditaire aandoening
congenitaal defect in glycosylering type I
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congenitaal defect in glycosylering door deficiëntie van mannose-6-fosfaatisomerase (aandoening)
congenitaal defect in glycosylering door deficiëntie van mannose-6-fosfaatisomerase
congenitaal defect in glycosylering door fosfomannose-isomerasedeficiëntie
congenitaal defect in glycosylering door fosfohexo-isomerasedeficiëntie
MPI-CDG
congenitaal defect in glycosylering type Ib
Mannosephosphate isomerase congenital disorder of glycosylation
Mannose-6-phosphate isomerase congenital disorder of glycosylation
MPI-CDG - mannosephosphate isomerase congenital disorder of glycosylation
Congenital disorder of glycosylation type 1b
Carbohydrate deficient glycoprotein syndrome type Ib
A form of congenital disorder of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminemia, life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency, low anti-thrombin III levels). Neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).
Id1231141008
StatusPrimitive
Due todeficiëntie van mannose-6-fosfaatisomerase
Occurrencecongenitaal
SNOMED CT to Orphanet simple map79319
SNOMED CT to ICD-10 extended map
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