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 |
3326800013 | A rare type of severe combined immunodeficiency (SCID) with missing functional T-cells. The disease affects growth of the hair and nails. Affected individuals have no scalp hair, eyebrows, or eyelashes and the nails are often ridged, pitted, or abnormally curved. The disease results from mutations in the FOXN1 gene which prevents cells from making any functional FOXN1 protein. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3907871000052116 | syndrom med svår T-cellsimmunbrist, medfödd alopeci och nageldystrofi | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
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 | utvecklingsabnormitet | false | Inferred relationship | Some | 4 | |
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) | Finding site | nagel, struktur | 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 |
This concept is not in any reference sets