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Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)
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.
syndroom van obesitas, colitis, hypothyreoïdie, cardiale hypertrofie en ontwikkelingsachterstand
syndroom van obesitas, colitis, hypothyroïdie, cardiale hypertrofie en ontwikkelingsachterstand
Id722051004
StatusPrimitive
Has interpretationAbove reference range
InterpretsBody weight measure
Associated morphologyHypertrophy
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyInflammatory morphology
Finding siteColon structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteThyroid structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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