FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1186652002: Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4667203011 NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667204017 NFAT5 haploinsufficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667205016 Inflammatory bowel disease, recurrent sinopulmonary infection syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667206015 Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5399498011 A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399499015 A rare genetic immune disease characterised by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhoea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667203011 NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667204017 NFAT5 haploinsufficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667205016 Inflammatory bowel disease, recurrent sinopulmonary infection syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667206015 Inflammatory bowel disease, recurrent sinopulmonary infection syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4667207012 A rare genetic immune disease characterised by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhoea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4667208019 A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399498011 A rare genetic immune disease characterized by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399499015 A rare genetic immune disease characterised by recurrent sinopulmonary infections and autoimmune enterocolopathy, manifesting as frequent episodes of intractable diarrhoea with abdominal pain and fever, accompanied by eczematous rashes, due to deficits in components of innate and adaptive immunity. Immunologic abnormalities include IgG subclass deficiency, impaired antigen-induced lymphocyte proliferation, reduced cytokine production by CD8+ T lymphocytes, and decreased numbers of natural killer cells. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3422691001000116 Entzündliche Darmerkrankung-rekurrente sinupulmonale Infektionen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317781000241110 syndrome de MICI (maladie inflammatoire chronique de l'intestin) et infection sinopulmonaire récurrente fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317791000241112 syndrome de maladie inflammatoire chronique de l'intestin et infection sinopulmonaire récidivante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317801000241111 déficit en NFAT5 (nuclear factor of activated T cells 5) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317781000241110 syndrome de MICI (maladie inflammatoire chronique de l'intestin) et infection sinopulmonaire récurrente fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317791000241112 syndrome de maladie inflammatoire chronique de l'intestin et infection sinopulmonaire récidivante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6317801000241111 déficit en NFAT5 (nuclear factor of activated T cells 5) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3422691001000116 Entzündliche Darmerkrankung-rekurrente sinupulmonale Infektionen-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Chronic digestive system disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Inflammatory disorder of digestive tract false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Chronic disease of respiratory system false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Chronic infectious disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Respiratory tract infection true Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Inflammation of specific body organs false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Chronic disease of immune function (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Recurrent disease false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Primary immune deficiency disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Autoimmune disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Disease of intestine false Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Clinical course Recurrent (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Pathological process (attribute) Autoimmune process true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Finding site Structure of respiratory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Pathological process (attribute) Infectious process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Enteritis of intestine true Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a Recurrent infectious disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start