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obesitas door deficiëntie van 'SIM bHLH transcription factor 1' (aandoening)
obesitas door deficiëntie van 'SIM bHLH transcription factor 1'
obesitas door SIM1-deficiëntie
obesitas door 'single-minded homolog 1'-deficiëntie
Obesity due to SIM1 deficiency
Obesity due to SIM bHLH transcription factor 1 deficiency
A rare genetic form of obesity with characteristics of severe early-onset obesity, hyperphagia and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features.
Id783719006
StatusPrimitive
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