702449004: syndroom van auto-inflammatie, lipodystrofie en dermatose (aandoening)

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:

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	ontsteking (afwijkende morfologie)	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

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
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
6187291000146111	Japans auto-inflammatoir syndroom met lipodystrofie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6187301000146110	syndroom van Nakajo-Nishimura	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6642071000146112	syndroom van auto-inflammatie, lipodystrofie en dermatose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6642081000146114	syndroom van auto-inflammatie, lipodystrofie en dermatose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)