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58606001: Primary immune deficiency disorder (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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


376 descendants. Search Descendants:

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group
Neonatal inflammatory skin and bowel disease Is a True Primary immune deficiency disorder Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis 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 ITCH deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Immunodeficiency due to CD25 deficiency 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 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 Is a True Primary immune deficiency disorder Inferred relationship Some
IL21-related infantile inflammatory bowel disease 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 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
CEBPE-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement Is a True Primary immune deficiency disorder Inferred relationship Some
Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome 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, hypogammaglobulinaemia Is a True Primary immune deficiency disorder Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome 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 True 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
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
Mannose-binding lectin deficiency Is a True Primary immune deficiency disorder Inferred relationship Some
Activated PI3K-delta syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Say Barber Miller syndrome Is a True Primary immune deficiency disorder Inferred relationship Some
Melanoma differentiation-associated gene 5 deficiency 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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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