Short stature co-occurrent and due to endocrine disorder
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Short stature due to partial growth hormone receptor deficiency (disorder)
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.
kleine gestalte door partiële groeihormoonreceptordeficiëntie
kleine lichaamslengte door partiële GH-receptordeficiëntie
Id783098009
StatusPrimitive
Due toPartial growth hormone deficiency
Pathological processPathological developmental process
Finding siteStructure of endocrine system
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified