Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3472899015 | 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3472900013 | 3-phosphoglycerate dehydrogenase deficiency infantile form | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3472901012 | An autosomal recessive form of serine deficiency. The infantile disease has clinical characteristics in the few reported cases of congenital microcephaly, psychomotor retardation and intractable seizures. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Congenital microcephaly | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Interprets | Birth head circumference | true | Inferred relationship | Some | 2 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Finding site | Structure of nervous system | true | Inferred relationship | Some | 3 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Microcephalus | false | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Is a | 3-Phosphoglycerate dehydrogenase deficiency | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form | Finding site | Brain structure | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR