721074002: Short stature due to primary acid labile subunit deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature due to primary acid labile subunit 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 due to primary acid labile subunit deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature due to primary acid labile subunit deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature due to primary acid labile subunit deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Short stature due to primary acid labile subunit deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature due to primary acid labile subunit deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3323363010	Short stature due to primary acid labile subunit deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323364016	Short stature due to primary acid labile subunit deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3323369014	Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core
3323370010	Short stature due to primary acid-labile subunit (ALS) deficiency is characterised by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3) and hyperinsulinaemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. Less than 10 cases have been reported in the literature so far. It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3). Primary ALS deficiency is inherited in an autosomal recessive manner.	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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