702449004: Autoinflammation, lipodystrophy and dermatosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Nakajo-Nishimura syndrome
\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Nakajo-Nishimura syndrome
\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Nakajo-Nishimura syndrome

\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Nakajo-Nishimura syndrome
\Disorder of immune function (disorder)\Hereditary disorder of immune system\Nakajo-Nishimura syndrome

\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Nakajo-Nishimura syndrome
\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Nakajo-Nishimura syndrome
\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Nakajo-Nishimura syndrome

\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Nakajo-Nishimura syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2994971011 Autoinflammation, lipodystrophy and dermatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995119010 Japanese autoinflammatory syndrome with lipodystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995474019 Nakajo-Nishimura syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995482019 Nakajo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2995492010 Autoinflammation, lipodystrophy and dermatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5073594011 Proteasome-associated autoinflammatory syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nakajo-Nishimura syndrome	Is a	Inflammatory disorder of immune system	false	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Nakajo-Nishimura syndrome	Associated morphology	Inflammation	false	Inferred relationship	Some	1
Nakajo-Nishimura syndrome	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	1
Nakajo-Nishimura syndrome	Associated morphology	Inflammatory morphology (morphologic abnormality)	true	Inferred relationship	Some	1
Nakajo-Nishimura syndrome	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Nakajo-Nishimura syndrome	Is a	Autoinflammatory disease (disorder)	false	Inferred relationship	Some
Nakajo-Nishimura syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	1
Nakajo-Nishimura syndrome	Is a	Type I interferonopathy	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets