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syndroom van multipele congenitale anomalieën, hypotonie en insulten type 2 (aandoening)
syndroom van multipele congenitale anomalieën, hypotonie en insulten type 2
MCAHS2-syndroom
meerdere aangeboren afwijkingen-hypotonie-epileptische aanvallen-syndroom type 2
multipele congenitale anomalieën-hypotonie-insulten-syndroom type 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2
MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2
A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22.
Id773643006
StatusPrimitive
Finding sitestructuur van cerebrum
Occurrencecongenitaal
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