autosomaal recessieve hereditaire aandoening
congenitaal defect in glycosylering type I
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congenitaal defect in glycosylering type 1p (aandoening)
congenitaal defect in glycosylering type 1p
CDG-syndroom type 1p
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
Asparagine-linked glycosylation 11 congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ip
ALG11-CDG - asparagine-linked glycosylation 11 congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation with characteristics of facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).
Id733085004
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 map280071
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