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kleine gestalte door partiële groeihormoonreceptordeficiëntie (aandoening)
kleine gestalte door partiële groeihormoonreceptordeficiëntie
kleine lichaamslengte door partiële GH-receptordeficiëntie
Short stature due to partial growth hormone receptor deficiency
Short stature due to partial GHR (growth hormone receptor) deficiency
A rare genetic endocrine disease with characteristics of idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. There is evidence the disease is caused by heterozygous mutation in the growth hormone receptor gene (GHR) on chromosome 5p13-p12.
Id783098009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified