783616005: Perilipin 1 related familial partial lipodystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy

\Finding of trunk structure\Disorder of trunk\Familial partial lipodystrophy\Perilipin 1 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\Perilipin 1 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\Perilipin 1 related familial partial lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Perilipin 1 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\Perilipin 1 related familial partial lipodystrophy

\Disease\Genetic disease\Genetic lipodystrophy\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Perilipin 1 related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Inherited disorder of connective tissue\Perilipin 1 related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Perilipin 1 related familial partial lipodystrophy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Insulin resistance\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Perilipin 1 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\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of extremity\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of trunk\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of connective tissue\Inherited disorder of connective tissue\Perilipin 1 related familial partial lipodystrophy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\Perilipin 1 related familial partial lipodystrophy
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate absorption\Glucose-galactose malabsorption\Malabsorption of glucose\Insulin resistance\Perilipin 1 related familial partial lipodystrophy
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose regulation\Insulin resistance\Perilipin 1 related familial partial lipodystrophy
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of carbohydrate transport\Malabsorption of glucose\Insulin resistance\Perilipin 1 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\Perilipin 1 related familial partial lipodystrophy

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3759511016 PLIN1-related familial partial lipodystrophy en Synonym Active Case sensitive SNOMED CT core

3759512011 Perilipin 1 related familial partial lipodystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3759513018 FPLD4 - familial partial lipodystrophy type 4 en Synonym Active Case sensitive SNOMED CT core

3759514012 Perilipin 1 related familial partial lipodystrophy en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Perilipin 1 related familial partial lipodystrophy	Is a	Inherited disorder of connective tissue	true	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy	Is a	Insulin resistance	true	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy	Is a	Familial partial lipodystrophy	true	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy	Associated morphology	Dystrophy	true	Inferred relationship	Some	1
Perilipin 1 related familial partial lipodystrophy	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy	Finding site	Subcutaneous fatty tissue	true	Inferred relationship	Some	1
Perilipin 1 related familial partial lipodystrophy	Finding site	Trunk structure	true	Inferred relationship	Some	3
Perilipin 1 related familial partial lipodystrophy	Finding site	Limb structure	true	Inferred relationship	Some	4
Perilipin 1 related familial partial lipodystrophy	Finding site	Structure of endocrine system	true	Inferred relationship	Some	2
Perilipin 1 related familial partial lipodystrophy	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3759511016	PLIN1-related familial partial lipodystrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3759512011	Perilipin 1 related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3759513018	FPLD4 - familial partial lipodystrophy type 4	en	Synonym	Active	Case sensitive	SNOMED CT core
3759514012	Perilipin 1 related familial partial lipodystrophy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core