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

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy

\Finding of trunk structure\Disorder of trunk\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy

\General finding of soft tissue\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy
\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\Autosomal semi-dominant severe lipodystrophic laminopathy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\Autosomal semi-dominant severe lipodystrophic laminopathy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Autosomal semi-dominant severe lipodystrophic laminopathy
\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\Autosomal semi-dominant severe lipodystrophic laminopathy

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

4697883013 Autosomal semi-dominant severe lipodystrophic laminopathy en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4697882015	Autosomal semi-dominant severe lipodystrophic laminopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4697883013	Autosomal semi-dominant severe lipodystrophic laminopathy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core