768556005: Ataxia pancytopenia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\pancytopénie\Ataxia pancytopenia syndrome
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\...
• \troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \anémie\pancytopénie\Ataxia pancytopenia syndrome
• \anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \anomalie de la lignée blanche\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Platelet disorder\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Platelet disorder\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
• \Cerebellar ataxia\Ataxia pancytopenia syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ataxia pancytopenia syndrome
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\pancytopénie\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\pancytopénie\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\pancytopénie\Ataxia pancytopenia syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Ataxia pancytopenia syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Ataxia pancytopenia syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\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
3686039019	Ataxia pancytopenia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686040017	Ataxia pancytopenia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686041018	Myelocerebellar disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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
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

Expanded Value Set

This concept is not in any reference sets

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