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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\Obesity\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.
    • \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\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.
    • \Disease\Obesity\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.

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
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
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 Active 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 Active 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
3418441001000116 Adipositas durch Prohormon-Konvertase I-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968351000172118 obésité par déficit en prohormone convertase I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968351000172118 obésité par déficit en prohormone convertase I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418441001000116 Adipositas durch Prohormon-Konvertase I-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
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. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a Obesity true Inferred relationship Existential restriction modifier (core metadata concept)
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. Has definitional manifestation Obese false Inferred relationship Existential restriction modifier (core metadata concept)
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. Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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