1197746001: AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Finding of trunk structure\Disorder of trunk (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of limb (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of trunk (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy (disorder)\A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5399780013	A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399781012	A rare familial partial lipodystrophy characterised by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinaemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697877010	AKT serine/threonine kinase 2-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697878017	AKT2-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697879013	AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7736281000241113	LDPF (lipodystrophie partielle familiale) causée par l'AKT2 (AKT sérine/thréonine kinase 2)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7736291000241110	lipodystrophie partielle familiale associée à l'AKT sérine/thréonine kinase 2	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3447721001000110	Lipodystrophie, familiäre partielle, durch AKT2-Genmutation	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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

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