722053001: Obesity due to prohormone convertase I deficiency (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Obesity due to prohormone convertase I deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Obesity due to prohormone convertase I deficiency
• \Disease\Obesity\Obesity due to prohormone convertase I deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330397012	Obesity due to prohormone convertase I deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3330398019	Obesity due to prohormone convertase I deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3330399010	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin.	en	Definition	Active	Case sensitive	SNOMED CT core
3330400015	Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycemia, and elevated circulating levels of certain prohormones. It has been described in two patients: a 43-year-old woman and a female infant. The disorder is caused by mutations in the gene encoding prohormone convertase-1 (PCSK1, 5q15-q21), an enzyme involved in the processing of POMC, and numerous prohormones including proinsulin.	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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