778027003: Primary CD59 deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Measurement finding\Finding of substance level\Protein level - finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Primary CD59 deficiency
\Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Primary CD59 deficiency
\Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Primary CD59 deficiency

\Finding of blood, lymphatics and immune system\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Anaemia\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Haemolytic disorder\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Primary CD59 deficiency
\Finding of blood, lymphatics and immune system\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency

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

\Functional finding\Red blood cell destruction finding\Haemolysis\Haemolytic disorder\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell 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\Hereditary disorder of immune system\Primary CD59 deficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Disorder of complement\Complement deficiency disease\Complement regulatory factor defect\Primary CD59 deficiency
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Primary CD59 deficiency
\Disease\Blood disease\Anaemia\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Disease\Blood disease\Haemolytic disorder\Haemolytic anaemia\Coombs negative haemolytic anaemia\Primary CD59 deficiency
\Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Primary CD59 deficiency
\Disease\Disorder of body system\Disorder of immune structure\Complement regulatory factor defect\Primary CD59 deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell 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\Neurological disorder\Neuropathy\Peripheral neuropathy\Primary CD59 deficiency
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Primary CD59 deficiency
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Primary CD59 deficiency
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Primary CD59 deficiency
\Disease\Disorder of soft tissue\Peripheral neuropathy\Primary CD59 deficiency

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3737312013 Primary CD59 deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3737313015 Primary CD59 deficiency (disorder) en Fully specified name Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

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 haemolytic anaemia	true	Inferred relationship	Some
Primary CD59 deficiency	Is a	Hereditary red blood cell disorder	true	Inferred relationship	Some
Primary CD59 deficiency	Finding site	Peripheral nerve structure	true	Inferred relationship	Some	5
Primary CD59 deficiency	Is a	Peripheral neuropathy	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	true	Inferred relationship	Some	7
Primary CD59 deficiency	Interprets	Haemolysis	true	Inferred relationship	Some	3
Primary CD59 deficiency	Has interpretation	Present	true	Inferred relationship	Some	3
Primary CD59 deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	6
Primary CD59 deficiency	Is a	Haemoglobin low	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3737312013	Primary CD59 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3737313015	Primary CD59 deficiency (disorder)	en	Fully specified name	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core