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 |
| 752501000241115 | syndrome d'immunodéficience primaire par déficit en p14 (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 934721000172113 | syndrome d'immunodéficience primaire avec petite taille | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 999241000172115 | syndrome d'immunodéficience primaire par déficit en p14 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3313322017 | This syndrome has characteristics of short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. To date, it has been described in four members of one family. Linkage analysis led to the identification of a homozygous deletion in the coding region of the ROBLD3 gene, resulting in reduced expression of the endosomal adaptor protein p14. | 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) | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | Due to | anomalie chromosomique | true | Inferred relationship | Some | 1 | |
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | est un(e) (attribut) | Immunodeficiency associated with chromosomal abnormality | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
| Primary immunodeficiency syndrome due to p14 deficiency (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR