Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3439278016 | Immunodeficiency by defective expression of human leukocyte antigen class 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3439279012 | Bare lymphocyte syndrome type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3439280010 | Bare lymphocyte syndrome type I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3439281014 | Immunodeficiency by defective expression of HLA (human leukocyte antigen) class 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3439282019 | Immunodeficiency by defective expression of human leukocyte antigen class I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406791016 | Major histocompatibility complex class I deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406792011 | MHC (major histocompatibility complex) class I deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5406812016 | Immunodeficiency by defective expression of human leucocyte antigen class I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5406813014 | Immunodeficiency by defective expression of human leucocyte antigen class 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5406814015 | Immunodeficiency by defective expression of HLA (human leucocyte antigen) class 1 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5407342019 | Immunodeficiency by defective expression of major histocompatibility complex class I (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5407343012 | Immunodeficiency by defective expression of major histocompatibility complex class I | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3439283012 | A very rare, primary genetic immunodeficiency disorder with characteristic of partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Major histocompatibility complex class I deficiency | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | false | Inferred relationship | Some | ||
| Major histocompatibility complex class I deficiency | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Major histocompatibility complex class I deficiency | Finding site | Body system structure | false | Inferred relationship | Some | 2 | |
| Major histocompatibility complex class I deficiency | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Major histocompatibility complex class I deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Major histocompatibility complex class I deficiency | Is a | Combined immunodeficiency disease | true | Inferred relationship | Some | ||
| Major histocompatibility complex class I deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (disorder) | Is a | True | Major histocompatibility complex class I deficiency | Inferred relationship | Some | |
| Major histocompatibility complex class I deficiency due to TAP1 mutation | Is a | True | Major histocompatibility complex class I deficiency | Inferred relationship | Some | |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to transporter 2, ATP binding cassette subfamily B member mutation (disorder) | Is a | True | Major histocompatibility complex class I deficiency | Inferred relationship | Some | |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to TAP binding protein mutation (disorder) | Is a | True | Major histocompatibility complex class I deficiency | Inferred relationship | Some |
This concept is not in any reference sets
FHIR