Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5089280014 | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089281013 | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089282018 | DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089283011 | DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089284017 | A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbour of SON, DONSON (21q22.11), a replisome component that stabilises forks during genome replication. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5089285016 | A rare autosomal recessive microcephalic primordial dwarfism with characteristics of congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. The disorder is due to bi-allelic mutations in the downstream neighbor of SON, DONSON (21q22.11), a replisome component that stabilizes forks during genome replication. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5759171000052114 | DONSON-relaterat spektrum av mikrocefali, kortväxthet och extremitetsdefekter | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Skeletal dysplasia | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Primordial dwarfism | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Interprets | Body height measure (observable entity) | true | Inferred relationship | Some | 4 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR