703540008: Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (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\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\Red blood cell count outside reference range\RBC count low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Haematopoietic system finding\Haematology test outside reference range\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Evaluation finding\Haematopoietic system finding\Haemoglobin finding\Haemoglobin level outside reference range\Haemoglobin low\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Anaemia\Chronic anaemia\Majeed syndrome
• \Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Majeed syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Majeed syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Majeed syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\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\Chronic disease of immune function\Majeed syndrome
• \Disease\Disorder of immune function\Hereditary disorder of immune system\Majeed syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Majeed syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Majeed syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Disease\Blood disease\Anaemia\Chronic anaemia\Majeed syndrome
• \Disease\Blood disease\Anaemia\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Disease\Blood disease\Anaemia\Anaemia due to decreased red cell production\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Disease\Blood disease\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\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\Hereditary red blood cell disorder\Congenital dyserythropoietic anaemia\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\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Inflammatory disorder of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Majeed syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\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\Congenital disease\Congenital anaemia\Congenital dyserythropoietic anaemia\Majeed syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Majeed syndrome
• \Disease\Chronic disease\Chronic disease of immune function\Majeed syndrome
• \Disease\Chronic disease\Chronic anaemia\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\Majeed syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Majeed syndrome

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3009648015	Majeed syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3010147011	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3010149014	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3010166011	Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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