1197745002: Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)

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

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4697870012	Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697871011	FPLD3 - familial partial lipodystrophy type 3	en	Synonym	Active	Case sensitive	SNOMED CT core
4697872016	PPARG-related familial partial lipodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
4697873014	Familial partial lipodystrophy type 3	en	Synonym	Active	Case insensitive	SNOMED CT core
4697874015	Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
4697875019	A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidaemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.	en	Definition	Active	Case sensitive	SNOMED CT core
4697876018	A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasma, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axilla and neck, hirsutism, and muscular hypertrophy of the lower limbs. Caused by heterozygous mutation in the PPARG gene on chromosome 3p25.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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