Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5035134012 | L-ferritin deficiency (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5035135013 | L-ferritin deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5035136014 | LFTD - L-ferritin deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399908013 | A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399909017 | A rare genetic haematologic disease characterised by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalised seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| L-ferritin deficiency (disorder) | Is a | Serum ferritin level below reference range | true | Inferred relationship | Some | ||
| L-ferritin deficiency (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| L-ferritin deficiency (disorder) | Interprets | Serum ferritin measurement | true | Inferred relationship | Some | 1 | |
| L-ferritin deficiency (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR