1197747005: Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \constatation générale à propos des tissus mous\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection dégénérative\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Insulin resistance (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection d'une extrémité\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection du tronc\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Glucose-galactose malabsorption\Malabsorption of glucose\Insulin resistance (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Insulin resistance (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport (disorder)\Malabsorption of glucose\Insulin resistance (disorder)\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)

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
4697882015	Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697883013	Autosomal semi-dominant severe lipodystrophic laminopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697884019	A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4697885018	A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridaemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

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US English

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