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congenitale spierdystrofie met verstandelijke beperking en ernstige epilepsie (aandoening)
congenitale spierdystrofie met verstandelijke beperking en ernstige epilepsie
congenitale spierdystrofie met verstandelijke handicap en ernstige epilepsie
congenitale spierdystrofie met mentale retardatie en ernstige epilepsie
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type 1u
Congenital disorder of glycosylation type 1u
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34.
Id782772000
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Clinical courseprogressief
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