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58606001: Primary immune deficiency disorder (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
97391015 Primary immune deficiency disorder en Synonym Active Entire term case insensitive SNOMED CT core module
797357013 Primary immune deficiency disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1231855019 Primary immunodeficiency en Synonym Active Entire term case insensitive SNOMED CT core module


376 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary immune deficiency disorder Is a Immunodeficiency disorder true Inferred relationship Existential restriction modifier
Primary immune deficiency disorder Finding site Structure of immune system false Inferred relationship Existential restriction modifier
Primary immune deficiency disorder Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier
Primary immune deficiency disorder Pathological process Abnormal immune process true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Immunoglobulin heavy chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunoglobulin light chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunoglobulin subclass deficiency Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunoglobulin-associated molecule deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Specific antibody deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Primary immunoglobulin catabolism abnormality Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Phagocytic cell defect Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Tuftsin deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunodeficiency with major anomalies Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
De Vaal's syndrome Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Disorder of complement Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Severe combined immunodeficiency disease Is a False Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunodeficiency associated with chromosomal abnormality Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunoglobulin deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Combined immunodeficiency disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Interleukin-12 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Mannose-binding lectin deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Activated PI3K-delta syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Melanoma differentiation-associated gene 5 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Vasculitis due to adenosine deaminase 2 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
T-cell immunodeficiency due to ras homolog family member H deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Neonatal inflammatory skin and bowel disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immunodeficiency due to CD25 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Susceptibility to viral and mycobacterial infection Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Deficiency of interleukin 36 receptor antagonist Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Blau syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
X-linked lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Mendelian susceptibility to mycobacterial disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Interleukin 21 related infantile inflammatory bowel disease Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Infantile inflammatory bowel disease with neurological involvement Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Primary immune deficiency disorder Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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