1197749008: Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Familial partial lipodystrophy\CIDEC-related familial partial lipodystrophy
• \Finding of trunk structure\Disorder of trunk (disorder)\Familial partial lipodystrophy\CIDEC-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\CIDEC-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\CIDEC-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\CIDEC-related familial partial lipodystrophy
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\CIDEC-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\CIDEC-related familial partial lipodystrophy
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\CIDEC-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\CIDEC-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\CIDEC-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\CIDEC-related familial partial lipodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\CIDEC-related familial partial lipodystrophy
• \Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\CIDEC-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\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of limb (disorder)\Familial partial lipodystrophy\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of trunk (disorder)\Familial partial lipodystrophy\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\CIDEC-related familial partial lipodystrophy
• \Disease\Disorder of connective tissue (disorder)\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\CIDEC-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\CIDEC-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
4697896014	Cell death inducing DFFA like effector C-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4697897017	CIDEC-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697898010	Cell death inducing DFFA like effector C-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4697899019	FPLD5 - familial partial lipodystrophy type 5	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399784016	A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399785015	A rare, genetic lipodystrophy characterised by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis.	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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