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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
1231855019 Primary immunodeficiency 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
97391015 Primary immune deficiency disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


374 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary immune deficiency disorder (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 1
Primary immune deficiency disorder (disorder) est un(e) (attribut) troubles d'immunodéficience true Inferred relationship Some
Primary immune deficiency disorder (disorder) est défini par la manifestation de (attribut) Immune system finding false Inferred relationship Some
Primary immune deficiency disorder (disorder) localisation d'une constatation (attribut) structure du système immunitaire false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Neonatal inflammatory skin and bowel disease (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunodeficiency due to CD25 deficiency (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Susceptibility to viral and mycobacterial infection est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Majeed syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Blau syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Autoimmune lymphoproliferative syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
X-linked lymphoproliferative syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Mendelian susceptibility to mycobacterial disease est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
syndrome immuno-neurologique lié à l'X est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Interleukin 21 related infantile inflammatory bowel disease (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Predisposition to invasive fungal disease due to CARD9 deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
CCAAT enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
De Vaal's syndrome est un(e) (attribut) False Primary immune deficiency disorder (disorder) Inferred relationship Some
Disorder of complement est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Severe combined immunodeficiency disease est un(e) (attribut) False Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunodeficiency associated with chromosomal abnormality est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunoglobulin deficiency (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Combined immunodeficiency disease est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Interleukin-12 deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunoglobulin heavy chain deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunoglobulin light chain deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunoglobulin subclass deficiency est un(e) (attribut) False Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunoglobulin-associated molecule deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Specific antibody deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Primary immunoglobulin catabolism abnormality est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Phagocytic cell defect est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Tuftsin deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immunodeficiency with major anomalies est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Mannose-binding lectin deficiency (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Activated PI3K-delta syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Melanoma differentiation-associated gene 5 deficiency (disorder) est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Vasculitis due to adenosine deaminase 2 deficiency est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
T-cell immunodeficiency with epidermodysplasia verruciformis est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some
Immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome est un(e) (attribut) True Primary immune deficiency disorder (disorder) Inferred relationship Some

This concept is not in any reference sets

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