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\Connective tissue hereditary disorder\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\Connective tissue hereditary disorder\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3759511016 PLIN1-related familial partial lipodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module

3759512011 Perilipin 1 related familial partial lipodystrophy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3759513018 FPLD4 - familial partial lipodystrophy type 4 en Synonym Active Entire term case sensitive SNOMED CT core module

3759514012 Perilipin 1 related familial partial lipodystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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