Autosomal hereditary disorder
Developmental hereditary disorder
Hereditary disorder of endocrine system
Short stature co-occurrent and due to endocrine disorder
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Short stature due to growth hormone secretagogue receptor deficiency (disorder)
Short stature due to growth hormone secretagogue receptor deficiency
Short stature due to GHSR (growth hormone secretagogue receptor) deficiency
Short stature due to GHSR deficiency
Ghrelin receptor deficiency
Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Id766817004
StatusPrimitive
Due toHypopituitarism
Finding siteStructure of endocrine system
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBody height
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE23.0
TermHypopituïtarisme
SNOMED CT to ICD-10 extended map
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified