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\AKT2-related familial partial lipodystrophy
• \Finding of trunk structure\Disorder of trunk (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \General finding of soft tissue\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \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\AKT2-related familial partial lipodystrophy
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\AKT2-related familial partial lipodystrophy
• \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\AKT2-related familial partial lipodystrophy
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\AKT2-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\AKT2-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\AKT2-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\AKT2-related familial partial lipodystrophy
• \Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\AKT2-related familial partial lipodystrophy
• \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\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of limb (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of trunk (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\AKT2-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\AKT2-related familial partial lipodystrophy
• \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\AKT2-related familial partial lipodystrophy

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
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
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

Expanded Value Set

Reference Sets

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

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