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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323364016	Short stature due to primary acid labile subunit deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402579013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402580011	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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