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kleine gestalte door '‘growth hormone secretagogue'-receptordeficiëntie (aandoening)
kleine gestalte door '‘growth hormone secretagogue'-receptordeficiëntie
kleine gestalte door ghrelinereceptordeficiëntie
kleine gestalte door GHSR-deficiëntie
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to GHSR deficiency
Ghrelin receptor deficiency
Short stature due to GHSR (growth hormone secretagogue receptor) deficiency
A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Id766817004
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetE23.0
RuleTRUE
AdviceALWAYS E23.0
CorrelationSNOMED CT source code to target map code correlation not specified