1251449006: Ubiquitin specific peptidase 18 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Disorder of immune structure\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\Ubiquitin specific peptidase 18 deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Ubiquitin specific peptidase 18 deficiency (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5133517011	Ubiquitin specific peptidase 18 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133518018	USP18 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133519014	Ubiquitin specific peptidase 18 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400331013	A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400332018	A rare genetic neurological disorder characterised by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral haemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133517011	Ubiquitin specific peptidase 18 deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133518018	USP18 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133519014	Ubiquitin specific peptidase 18 deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5133520015	A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage and calcifications among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5133521016	A rare genetic neurological disorder characterised by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral haemorrhage and calcifications among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400331013	A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400332018	A rare genetic neurological disorder characterised by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral haemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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