autosomaal recessieve hereditaire aandoening
congenitaal defect in glycosylering type II
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congenitaal defect in glycosylering type II door deficiëntie van mannosidase-alfa klasse 1B lid 1 (aandoening)
congenitaal defect in glycosylering type II door deficiëntie van mannosidase-alfa klasse 1B lid 1
CDG-syndroom type II door deficiëntie van mannosidase-alfa klasse 1B lid 1
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
MAN1B1-CDG - mannosidase alpha class 1B member 1 deficiency congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation with characteristics of intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
Id733450008
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE77.8
TermOverige gespecificeerde stoornissen van glycoproteïnemetabolisme
SNOMED CT to Orphanet simple map397941
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