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FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
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FHIR
© HL7.org
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Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
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FHIR Version n/a
User: [n/a]
Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3736376014 | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736377017 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736378010 | APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736379019 | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736380016 | A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736376014 | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736377017 | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736378010 | APLAID - autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736379019 | Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3736380016 | A mixed autoinflammatory and autoimmune syndrome disorder with characteristics of recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures. Caused by heterozygous mutation in the PLCG2 gene on chromosome 16q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3387781001000110 | Autoinflammation mit PLCG2-assoziiertem Antikörper-Mangel und Immundysregulation | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5758341000241113 | syndrome auto-inflammatoire et dérèglement avec déficit immunitaire lié à la PLCG2 (phospholipase C gamma 2) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5758351000241111 | APLAID - autoinflammation and PLCG 2-associated antibody deficiency and immune dysregulation | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5758341000241113 | syndrome auto-inflammatoire et dérèglement avec déficit immunitaire lié à la PLCG2 (phospholipase C gamma 2) | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 5758351000241111 | APLAID - autoinflammation and PLCG 2-associated antibody deficiency and immune dysregulation | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 3387781001000110 | Autoinflammation mit PLCG2-assoziiertem Antikörper-Mangel und Immundysregulation | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Is a | Autoimmune disease | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Is a | Inflammatory disorder (disorder) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Associated morphology | inflammation | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Pathological process (attribute) | Autoimmune process | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Is a | Hereditary disorder of immune system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Is a | Autoinflammatory disease | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Pathological process (attribute) | Autoimmune process | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
| Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets