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778027003: Primary CD59 deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency

\General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Primary CD59 deficiency
\General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Primary CD59 deficiency

\Procedure related finding\Evaluation finding\...

\Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Primary CD59 deficiency
\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Primary CD59 deficiency

\Functional finding\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Primary CD59 deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Primary CD59 deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Primary CD59 deficiency
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Primary CD59 deficiency
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Primary CD59 deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Disease\Disorder of cellular component of blood (disorder)\Anemia\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency
\Disease\Disorder of cellular component of blood (disorder)\Hemolytic disorder\Hemolytic anemia\Coombs negative hemolytic anemia\Primary CD59 deficiency
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Disease\Disorder of body system\Disorder of immune structure (disorder)\Complement regulatory factor defect\Primary CD59 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Primary CD59 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Primary CD59 deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Primary CD59 deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Primary CD59 deficiency
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Primary CD59 deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Primary CD59 deficiency
\Disease\Disorder of soft tissue\Peripheral nerve disease\Primary CD59 deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737312013 Primary CD59 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3737313015 Primary CD59 deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3737314014 A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3737315010 A rare genetic hematologic and neurologic disease characterized by chronic Coombs-negative hemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4214591000052113 primär CD59-brist sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Primary CD59 deficiency	Is a	Complement regulatory factor defect	true	Inferred relationship	Some
Primary CD59 deficiency	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Primary CD59 deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Primary CD59 deficiency	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Primary CD59 deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Primary CD59 deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Primary CD59 deficiency	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Primary CD59 deficiency	Is a	Coombs negative hemolytic anemia	true	Inferred relationship	Some
Primary CD59 deficiency	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Primary CD59 deficiency	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	5
Primary CD59 deficiency	Is a	Peripheral nerve disease	true	Inferred relationship	Some
Primary CD59 deficiency	Interprets	Red blood cell count	true	Inferred relationship	Some	1
Primary CD59 deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	4
Primary CD59 deficiency	Finding site	Structure of immune system (body structure)	true	Inferred relationship	Some	7
Primary CD59 deficiency	Interprets	Hemolysis (observable entity)	true	Inferred relationship	Some	3
Primary CD59 deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
Primary CD59 deficiency	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	6
Primary CD59 deficiency	Is a	Hemoglobin below reference range (finding)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737312013	Primary CD59 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737313015	Primary CD59 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3737314014	A rare genetic haematologic and neurologic disease characterised by chronic Coombs-negative haemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3737315010	A rare genetic hematologic and neurologic disease characterized by chronic Coombs-negative hemolysis. The disease is associated with early-onset relapsing immune-mediated inflammatory axonal or demyelinating sensory-motor peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4214591000052113	primär CD59-brist	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)