1197751007: Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of limb structure\Disorder of extremity\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Finding of trunk structure\Disorder of trunk\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Genetic disease\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\LIPE-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\LIPE-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\LIPE-related familial partial lipodystrophy
• \Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of extremity\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of trunk\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue\Inherited disorder of connective tissue\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\LIPE-related familial partial lipodystrophy

Status: current, Primitive. Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697906018	FPLD6 - familial partial lipodystrophy type 6	en	Synonym	Active	Case sensitive	SNOMED CT core
4697907010	LIPE-related familial partial lipodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
5025593016	Lipase E, hormone sensitive type-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
5025594010	Lipase E, hormone sensitive type-related familial partial lipodystrophy	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4697909013	A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridaemia, hepatic steatosis, and vitiligo.	en	Definition	Active	Case sensitive	SNOMED CT core
4697910015	A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axilla, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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