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syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet (aandoening)
syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet
syndroom van mentale retardatie, convulsies, hypotonie en afwijkingen van oog en skelet
syndroom van verstandelijke beperking, insulten, hypotonie en afwijkingen van oog en skelet
MCAHS type 3
syndroom van verstandelijke handicap, convulsies, hypotonie en afwijkingen van oog en skelet
congenitaal defect in glycosylering door PIGT-deficiƫntie
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13.
Id770755007
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified