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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
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
Id783098009
StatusPrimitive
Has interpretationBelow reference range
InterpretsBody height
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE34.3
TermKleine gestalte, niet elders geclassificeerd
SNOMED CT to ICD-10 extended map
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified