Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313317017 | Primary immunodeficiency syndrome due to p14 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313320013 | Primary immunodeficiency syndrome due to p14 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313321012 | Primary immunodeficiency syndrome with short stature | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5401831011 | Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401832016 | Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Due to | Chromosomal disorder (disorder) | true | Inferred relationship | Some | 1 | |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Is a | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR