Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643878017 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643879013 | EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643880011 | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643881010 | Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643882015 | EXTL3-related neuro-immuno-skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643883013 | Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5399460011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399461010 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Developmental delay | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Spondylodysplastic group | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Genetic disease | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 2 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Is a | Immuno-osseous dysplasia | true | Inferred relationship | Some | ||
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 4 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 5 | |
| Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR