1360083000: Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (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 white blood cell disorder (disorder)\NOCARH syndrome
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\NOCARH syndrome
• \Disorder of cellular component of blood in newborn\Neonatal anemia\NOCARH syndrome
• \Disorder of cellular component of blood in newborn\Neonatal thrombocytopenia\NOCARH syndrome
• \Anemia\Neonatal anemia\NOCARH syndrome
• \Anemia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \White blood cell disorder\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \White blood cell disorder\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Platelet disorder\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Platelet disorder\Acquired platelet disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Platelet disorder\Acquired platelet disorder\Acquired pancytopenia\NOCARH syndrome
• \Platelet disorder\Inherited platelet disorder\NOCARH syndrome
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\White blood cell number - finding\White blood cell count outside reference range\Blood leukocyte number below reference range\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Neonatal anemia\NOCARH syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Neonatal anemia\NOCARH syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Neonatal anemia\NOCARH syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Acquired platelet disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Acquired platelet disorder\Acquired pancytopenia\NOCARH syndrome
• \Inherited platelet disorder\NOCARH syndrome
• \Neonatal finding (finding)\Neonatal disorder\...
• \Neonatal disorder of hematopoietic system\NOCARH syndrome
• \Disorder of cellular component of blood in newborn\Neonatal anemia\NOCARH syndrome
• \Disorder of cellular component of blood in newborn\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Genetic disease\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\NOCARH syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\NOCARH syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Phagocytic cell defect\Phagocytic cell dysfunction\Combined phagocytic defect\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of immune function (disorder)\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of hematopoietic cell proliferation (disorder)\Histiocytic syndrome\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Fetal and/or neonatal disorder\Neonatal disorder\Neonatal disorder of hematopoietic system\NOCARH syndrome
• \Disease\Fetal and/or neonatal disorder\Neonatal disorder\Disorder of cellular component of blood in newborn\Neonatal anemia\NOCARH syndrome
• \Disease\Fetal and/or neonatal disorder\Neonatal disorder\Disorder of cellular component of blood in newborn\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Disorder of cellular component of blood in newborn\Neonatal anemia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Disorder of cellular component of blood in newborn\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Neonatal anemia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Qualitative abnormality of granulocyte\Combined phagocytic defect\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Leucopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Acquired platelet disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Acquired platelet disorder\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\NOCARH syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Immune thrombocytopenia\Pancytopenia\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Acquired platelet disorder\Neonatal thrombocytopenia\NOCARH syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Acquired platelet disorder\Acquired pancytopenia\NOCARH syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\NOCARH syndrome
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\NOCARH syndrome
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Combined phagocytic defect\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Neonatal disorder of hematopoietic system\NOCARH syndrome
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Haemophagocytic lymphohistiocytosis\NOCARH syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\NOCARH syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\NOCARH syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\NOCARH syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of immune system\Autoinflammatory disease (disorder)\Monogenic autoinflammatory syndrome (disorder)\Type I interferonopathy\NOCARH syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2025. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5439672010	NOCARH syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439673017	Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5439674011	Neonatal onset cytopenia, autoinflammation, rash, episodes of hemophagocytic lymphohistiocytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5439677016	A rare unclassified autoinflammatory syndrome characterised by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and haemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5439678014	A rare unclassified autoinflammatory syndrome characterized by neonatal onset pancytopenia, type I interferon-dependent multisystemic autoinflammation, painful rash with variable frequencies and hemophagocytic lymphohistiocytosis. Failure to thrive, fever, gastrointestinal/upper respiratory tract infections, enterocolitis, hepatosplenomegaly, myelofibrosis and neurodevelopmental delay are other common clinical features. Facial dysmorphism including macrocephaly, mild frontal bossing, sparse hair, mild hypertelorism, depressed nasal bridge can be present.	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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