Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3793557016 | Immunodeficiency, short limb dwarfism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3793558014 | Achondroplasia-Swiss type agammaglobulinemia syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3793559018 | Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3793560011 | Achondroplasia-Swiss type agammaglobulinaemia syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3793561010 | Short-limb skeletal dysplasia with severe combined immunodeficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3793562015 | Achondroplasia, severe combined immunodeficiency syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3793563013 | An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3793564019 | An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterised by the classical signs of T-B- SCID (severe and recurrent infections, diarrhoea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Finding site | Structure of epiphysis | false | Inferred relationship | Some | 3 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 4 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Finding site | Skeletal system structure | false | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Associated morphology | Growth alteration | false | Inferred relationship | Some | 3 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Autosomal recessive severe combined immunodeficiency disease (disorder) | true | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Severe combined immunodeficiency with low T- and B-cell numbers | true | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Achondroplasia | false | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Finding site | Structure of metaphysis | true | Inferred relationship | Some | 2 | |
| Short-limb skeletal dysplasia with severe combined immunodeficiency (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR