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58606001: Primary immune deficiency disorder (disorder)

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

Descriptions:

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

481 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 Some
Primary immune deficiency disorder Finding site Structure of immune system (body structure) false Inferred relationship Some
Primary immune deficiency disorder Has definitional manifestation Immune system finding false Inferred relationship Some
Primary immune deficiency disorder Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Immunoglobulin heavy chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Immunoglobulin light chain deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Immunoglobulin subclass deficiency Is a False Primary immune deficiency disorder Inferred relationship Some
Immunoglobulin-associated molecule deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Specific antibody deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Primary immunoglobulin catabolism abnormality Is a True Primary immune deficiency disorder Inferred relationship Some
Phagocytic cell defect Is a True Primary immune deficiency disorder Inferred relationship Some
Tuftsin deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Immunodeficiency with major anomalies Is a True Primary immune deficiency disorder Inferred relationship Some
De Vaal's syndrome Is a False Primary immune deficiency disorder Inferred relationship Some
Disorder of complement Is a True Primary immune deficiency disorder Inferred relationship Some
Severe combined immunodeficiency disease Is a False Primary immune deficiency disorder Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality Is a True Primary immune deficiency disorder Inferred relationship Some
Immunoglobulin deficiency Is a False Primary immune deficiency disorder Inferred relationship Some
Combined immunodeficiency disease Is a True Primary immune deficiency disorder Inferred relationship Some
Interleukin-12 deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Mannose-binding lectin deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Activated PI3K-delta syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Melanoma differentiation-associated gene 5 deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis Is a True Primary immune deficiency disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation Is a True Primary immune deficiency disorder Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Immunodeficiency due to CD25 deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Susceptibility to viral and mycobacterial infection Is a True Primary immune deficiency disorder Inferred relationship Some
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Majeed syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist Is a True Primary immune deficiency disorder Inferred relationship Some
Blau syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
X-linked lymphoproliferative syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease Is a True Primary immune deficiency disorder Inferred relationship Some
X-linked immunoneurologic disorder (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Is a True Primary immune deficiency disorder Inferred relationship Some
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Disorder of immunoglobulin Is a True Primary immune deficiency disorder Inferred relationship Some
Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Common variable agammaglobulinemia Is a False Primary immune deficiency disorder Inferred relationship Some
Common variable immunodeficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Isolated agammaglobulinaemia Is a True Primary immune deficiency disorder Inferred relationship Some
Hyperimmunoglobulin M syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Constitutional mismatch repair deficiency syndrome (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Early-onset autoimmunity, autoinflammation, immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a True Primary immune deficiency disorder Inferred relationship Some

This concept is not in any reference sets

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