703540008: Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (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)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Anemia\Chronic anemia\Majeed syndrome
• \Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Majeed syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed 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)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed 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\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range (finding)\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Hematopoietic system finding\Haematology test outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range (finding)\Hemoglobin below reference range (finding)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Majeed syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Majeed syndrome
• \Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Majeed syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Majeed syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Majeed syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Majeed syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Majeed syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Chronic anemia\Majeed syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Majeed syndrome
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Congenital dyserythropoietic anemia\Majeed syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Majeed syndrome
• \Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Disease\Inflammatory disorder\Chronic inflammatory disorder\Majeed syndrome
• \Disease\Chronic disease\Chronic disease of immune function (disorder)\Majeed syndrome
• \Disease\Chronic disease\Chronic anemia\Majeed syndrome
• \Disease\Chronic disease\Chronic inflammatory disorder\Majeed syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Majeed syndrome
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Majeed syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Majeed syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3009648015	Majeed syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3010147011	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3010149014	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3010166011	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3759814017	An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3759815016	An extremely rare genetic multisystemic disorder with characteristics of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. The disease can be associated with fever, joint pain, delayed bone age, growth failure, short adult stature, and development of flexion contractures. Other reported manifestations include failure to thrive, hepatomegaly, neutropenia, and transient cholestatic jaundice. The clinical course is chronic. Caused by a mutation in LPIN2 (18p11.31), which encodes phosphatidate phosphatase LPIN2 (Lipin-2), important in lipid metabolism. Follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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