Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Aug 2022. Module: SNOMED CT core module
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 | SNOMED CT core module |
| 5089281013 | DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5089282018 | DNA replication fork stabilisation factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 5089283011 | DONSON-related microcephaly, short stature, limb abnormalities spectrum | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Congenital skeletal dysplasia | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Congenital microcephaly | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Primordial dwarfism | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Interprets | Birth head circumference | true | Inferred relationship | Existential restriction modifier | 3 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 3 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Finding site | Bone structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Associated morphology | Dysplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Finding site | Head structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Associated morphology | Congenital smallness | true | Inferred relationship | Existential restriction modifier | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Interprets | Body height measure | true | Inferred relationship | Existential restriction modifier | 4 | |
| DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum | Has interpretation | Below reference range | true | Inferred relationship | Existential restriction modifier | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR