783616005: Perilipin 1 related familial partial lipodystrophy (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (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\Perilipin 1 related familial partial lipodystrophy (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\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Integumentary system finding\Subcutaneous tissue finding (finding)\Disorder of subcutaneous tissue (disorder)\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy (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\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\Genetic disease\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Connective tissue hereditary disorder\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection dégénérative\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Insulin resistance (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy (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\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection d'une extrémité\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection du tronc\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection du tissu conjonctif\Connective tissue hereditary disorder\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\affection du tissu conjonctif\Subcutaneous fat disorder (disorder)\lipodystrophie\Genetic lipodystrophy (disorder)\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Glucose-galactose malabsorption\Malabsorption of glucose\Insulin resistance (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\trouble de la régulation glycémique\Insulin resistance (disorder)\Perilipin 1 related familial partial lipodystrophy (disorder)
• \Disease\trouble métabolique\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport (disorder)\Malabsorption of glucose\Insulin resistance (disorder)\Perilipin 1 related familial partial lipodystrophy (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\Perilipin 1 related familial partial lipodystrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3759511016	PLIN1-related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759512011	Perilipin 1 related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759513018	FPLD4 - familial partial lipodystrophy type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759514012	Perilipin 1 related familial partial lipodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759515013	A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759516014	A rare genetic lipodystrophy with characteristics of loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidaemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical. Caused by heterozygous mutation in the PLIN1 gene on chromosome 15q26.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start