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syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand (aandoening)
syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand
syndroom van obesitas, colitis, hypothyroïdie, cardiale hypertrofie en ontwikkelingsachterstand
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome
Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Hemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Syndrome with characteristics of precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of who died within the first month of life. The parents of the two children were nonconsanguineous and in good health however the pregnancies were complicated by maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Id722051004
StatusPrimitive
Associated morphologyhypertrofie
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyinflammatoire morfologie
Finding sitestructuur van colon
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