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\Finding of protein level\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\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\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Measurement finding\Finding of red blood cell count\Red blood cell count outside reference range\Red blood cell count below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Hematopoietic system finding\Hematology test outside reference range\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Evaluation finding\Hematopoietic system finding\Hemoglobin finding\Hemoglobin level outside reference range\Hemoglobin below reference range\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\...

\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

\Anemia\Chronic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of immune function\Chronic disease of immune function\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of immune function\Hereditary disorder of immune system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of cellular component of blood\Anemia\Chronic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of cellular component of blood\Anemia\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of cellular component of blood\Anemia\Anemia due to decreased red cell production\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of cellular component of blood\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Inflammatory disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Inflammatory disorder\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammatory disorder of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Inflammatory disorder\Chronic inflammatory disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Congenital disease\Congenital anemia\Congenital dyserythropoietic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Congenital disease\Congenital immunodeficiency disease\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Chronic disease\Chronic disease of immune function\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Chronic disease\Chronic anemia\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Chronic disease\Chronic inflammatory disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Developmental disorder\Disorder of bone development\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis
\Disease\Developmental disorder\Developmental hereditary disorder\Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3009648015 Majeed syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3010147011 Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3010149014 Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and neutrophilic dermatosis en Synonym Active Entire term case insensitive SNOMED CT core module

3010166011 Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Chronic multifocal osteomyelitis	false	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Clinical course	Chronic	true	Inferred relationship	Existential restriction modifier	6
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Pathological process	Infectious process	false	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Associated morphology	Chronic inflammation	false	Inferred relationship	Existential restriction modifier	5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Structure of multiple topographic sites	false	Inferred relationship	Existential restriction modifier	5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Associated morphology	Chronic inflammation	false	Inferred relationship	Existential restriction modifier	6
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier	6
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Pathological process	Infectious process	false	Inferred relationship	Existential restriction modifier	1
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Bone marrow structure	false	Inferred relationship	Existential restriction modifier	2
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Pathological process	Infectious process	false	Inferred relationship	Existential restriction modifier	2
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Associated morphology	Chronic inflammation	false	Inferred relationship	Existential restriction modifier	1
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Associated morphology	Chronic inflammation	true	Inferred relationship	Existential restriction modifier	2
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Chronic inflammatory disorder	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Inflammatory disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Congenital dyserythropoietic anemia	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Chronic anemia	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Hereditary disorder of immune system	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Primary immune deficiency disorder	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Interprets	Measurement of total hemoglobin concentration	true	Inferred relationship	Existential restriction modifier	5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Interprets	Red blood cell count	true	Inferred relationship	Existential restriction modifier	4
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Disorder of bone development	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Chronic disease of immune function	true	Inferred relationship	Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Due to	Decreased erythrocyte production	true	Inferred relationship	Existential restriction modifier	7
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier	2
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier	3
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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