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 |
| 3322827014 | Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322828016 | Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322829012 | Alymphoid cystic thymic dysgenesis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322830019 | Winged helix deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322831015 | Pignata Guarino syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3541031015 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3541032010 | Congenital alopecia and nail dystrophy with severe functional T-cell immunodeficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5402306015 | A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402307012 | A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterised by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhoea and failure to thrive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Congenital anomaly of nail | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Has definitional manifestation | Immune system finding | false | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Finding site | Nail structure | false | Inferred relationship | Some | 4 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 5 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Finding site | Nail unit structure | true | Inferred relationship | Some | 2 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Disorder of nail (disorder) | false | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Genetic disorder of nail (disorder) | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR