768556005: Ataxia pancytopenia syndrome (disorder)

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

\Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Thrombocytopenic disorder\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Thrombocytopenic disorder\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\RBC count low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Pancytopenia\Ataxia pancytopenia syndrome
\Evaluation finding\Hematopoietic system finding\Thrombocytopenic disorder\Pancytopenia\Ataxia pancytopenia syndrome

\Clinical history and observation findings\Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
\Clinical history and observation findings\Finding related to coordination / incoordination (finding)\Ataxia\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Clinical history and observation findings\Functional finding\Ataxia pancytopenia syndrome

\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Finding by site\Finding of body region\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Finding by site\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Finding by site\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Ataxia pancytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ataxia pancytopenia syndrome
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Pancytopenia\Ataxia pancytopenia syndrome
\Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Pancytopenia\Ataxia pancytopenia syndrome
\Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome
\Disease\Disorder by body site (disorder)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Ataxia pancytopenia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
3686039019	Ataxia pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3686040017	Ataxia pancytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3686041018	Myelocerebellar disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3686042013	Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	US English: Preferred (foundation metadata concept)
3686043015	Rare disease affecting the cerebellum and the bone marrow. Onset and symptoms vary among affected individuals. Atrophy and changes to the cerebellum cause problems including ataxia, dysmetria, clonus, nystagmus and these neurological issues worsen over time. Pancytopenia can result in extreme fatigue, anaemia, neutropenia and thrombocytopenia. This disease is also associated with increased risk of blood malignancy particularly myelodysplastic syndrome and acute myeloid leukaemia. Caused by inherited gain of function mutations in the SAMD9L gene. Inherited in an autosomal dominant pattern.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
4133441000052111	ataxia pancytopenia	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ataxia pancytopenia syndrome	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Is a	Hereditary white blood cell disorder (disorder)	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	5
Ataxia pancytopenia syndrome	Is a	Pancytopenia	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	1
Ataxia pancytopenia syndrome	Interprets	Red blood cell count	true	Inferred relationship	Some	4
Ataxia pancytopenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Ataxia pancytopenia syndrome	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Ataxia pancytopenia syndrome	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Ataxia pancytopenia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Interprets	White blood cell count	true	Inferred relationship	Some	1
Ataxia pancytopenia syndrome	Interprets	Platelet count	true	Inferred relationship	Some	3
Ataxia pancytopenia syndrome	Interprets	Measurement of total haemoglobin concentration	true	Inferred relationship	Some	2
Ataxia pancytopenia syndrome	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	7
Ataxia pancytopenia syndrome	Is a	Functional finding	true	Inferred relationship	Some
Ataxia pancytopenia syndrome	Interprets	Hemostatic function	false	Inferred relationship	Some	6
Ataxia pancytopenia syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	6
Ataxia pancytopenia syndrome	Interprets	Hemostatic function	true	Inferred relationship	Some	6
Ataxia pancytopenia syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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