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 |
| 6252781000146113 | primair immunodeficiëntiesyndroom met kleine gestalte | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6874641000146110 | primair immunodeficiëntiesyndroom door p14-deficiëntie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6874651000146113 | primair immunodeficiëntiesyndroom door p14-deficiëntie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12650381000146111 | primair immuundeficiëntiesyndroom door LAMTOR2-deficiëntie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained 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) | 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 |
This concept is not in any reference sets
FHIR