58606001: primaire immunodeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder

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

Descriptions:

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
immunoglobulinedeficiëntie (aandoening)	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

This concept is not in any reference sets

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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
97392010	Primary immune deficiency disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
1463571000146116	primair immunodeficiëntiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3711481000146117	primaire immuundeficiëntie (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3711491000146115	primaire immuundeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3711501000146113	PID	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7068901000146115	primaire immunodeficiëntie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7069711000146113	primaire immunodeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)