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vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van 'Src homology 2B adapter protein 1' (aandoening)
vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van SH2B1-deficiëntie
vroeg optredende ernstige obesitas met insulineresistentiesyndroom door deficiëntie van 'Src homology 2B adapter protein 1'
vroeg optredende ernstige obesitas met metabool syndroom door deficiëntie van 'Src homology 2B adapter protein 1'
Severe early-onset obesity insulin resistance syndrome due to SH2B1 deficiency
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency
A rare genetic form of obesity characterized by severe early-onset obesity, hyperphagia, insulin resistance with hyperinsulinemia, reduced adult final height, delayed speech and language development and a tendency for social isolation and aggressive behavior.
Id783556000
StatusPrimitive
Occurrencekinderleeftijd
referentieset met complexe 'mapping' naar ICD-10
TargetE66.8
RuleTRUE
AdviceALWAYS E66.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified