Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5243649016 | Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5243650016 | Serine biosynthesis pathway deficiency, infantile/juvenile form | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 14404311000146111 | serinebiosynthesedeficiëntiesyndroom van infantiele en/of juveniele type | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14404321000146118 | serinebiosynthesedeficiëntiesyndroom van infantiele en/of juveniele type (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 14404331000146116 | infantiele en/of juveniele vorm van serinesynthesedeficiëntiesyndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 5243651017 | A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and phosphoserine aminotransferase deficiency. The disease has a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) | Is a | Disorder of serine metabolism | true | Inferred relationship | Some | ||
| Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Serine biosynthesis pathway deficiency, infantile/juvenile form (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR