1251449006: Ubiquitin specific peptidase 18 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Ubiquitin specific peptidase 18 deficiency

\Finding of brain\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency

\Disorder of head\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Ubiquitin specific peptidase 18 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of immune function\Autoinflammatory disease\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Ubiquitin specific peptidase 18 deficiency
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5133517011 Ubiquitin specific peptidase 18 deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

5133518018 USP18 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

5133519014 Ubiquitin specific peptidase 18 deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ubiquitin specific peptidase 18 deficiency	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Is a	Microcephaly	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Is a	Autoinflammatory disease	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3
Ubiquitin specific peptidase 18 deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Ubiquitin specific peptidase 18 deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	1
Ubiquitin specific peptidase 18 deficiency	Finding site	Structure of immune system	true	Inferred relationship	Existential restriction modifier	2
Ubiquitin specific peptidase 18 deficiency	Associated morphology	Inflammatory morphology	true	Inferred relationship	Existential restriction modifier	2
Ubiquitin specific peptidase 18 deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2
Ubiquitin specific peptidase 18 deficiency	Is a	Degenerative brain disorder	true	Inferred relationship	Existential restriction modifier
Ubiquitin specific peptidase 18 deficiency	Finding site	Brain tissue structure	true	Inferred relationship	Existential restriction modifier	1

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
5133517011	Ubiquitin specific peptidase 18 deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5133518018	USP18 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5133519014	Ubiquitin specific peptidase 18 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module