783098009: Short stature due to partial growth hormone receptor deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder\Short stature due to partial growth hormone receptor deficiency
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder\Short stature due to partial growth hormone receptor deficiency
• \Disease\Disorder of body system\Disorder of endocrine system\Short stature co-occurrent and due to endocrine disorder\Short stature due to partial growth hormone receptor deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature co-occurrent and due to endocrine disorder\Short stature due to partial growth hormone receptor deficiency

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3757576010	Short stature due to partial growth hormone receptor deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3757577018	Short stature due to partial growth hormone receptor deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757578011	Short stature due to partial GHR (growth hormone receptor) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3757579015	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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