1197746001: AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy

\Finding of trunk structure\Disorder of trunk\Familial partial lipodystrophy\AKT serine/threonine kinase 2-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\AKT serine/threonine kinase 2-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\AKT serine/threonine kinase 2-related familial partial lipodystrophy

\Integumentary system finding\Subcutaneous tissue finding\Disorder of subcutaneous tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\AKT serine/threonine kinase 2-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\AKT serine/threonine kinase 2-related familial partial lipodystrophy

\Disease\Genetic disease\Genetic lipodystrophy\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Degenerative disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\AKT serine/threonine kinase 2-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\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of extremity\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of trunk\Familial partial lipodystrophy\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of connective tissue\Connective tissue hereditary disorder\AKT serine/threonine kinase 2-related familial partial lipodystrophy
\Disease\Disorder of connective tissue\Subcutaneous fat disorder\Lipodystrophy\Genetic lipodystrophy\Familial partial lipodystrophy\AKT serine/threonine kinase 2-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\AKT serine/threonine kinase 2-related familial partial lipodystrophy

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 28-Feb 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4697877010 AKT serine/threonine kinase 2-related familial partial lipodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
4697878017 AKT2-related familial partial lipodystrophy en Synonym Active Entire term case sensitive SNOMED CT core module
4697879013 AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4697877010	AKT serine/threonine kinase 2-related familial partial lipodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4697878017	AKT2-related familial partial lipodystrophy	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
4697879013	AKT serine/threonine kinase 2-related familial partial lipodystrophy (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module