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congenitaal defect in glycosylering type 2K (aandoening)
congenitaal defect in glycosylering type 2K
CDG-syndroom type 2K
Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
Congenital disorder of glycosylation type IIk
TMEM165-CDG - transmembrane protein 165 congenital disorder of glycosylation
Transmembrane protein 165 congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation with characteristics of psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
Id732252005
StatusPrimitive
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
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