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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Obesity due to prohormone convertase I deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Obesity due to prohormone convertase I deficiency (disorder)
• \Disease\Obesity (disorder)\Obesity due to prohormone convertase I 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
3330397012	Obesity due to prohormone convertase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3330398019	Obesity due to prohormone convertase I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402793016	A rare genetic endocrine disease characterized by early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402794010	A rare genetic endocrine disease characterised by early onset of severe intractable diarrhoea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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