Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3472900013 | 3-phosphoglycerate dehydrogenase deficiency infantile form | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 2 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 3 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | est un(e) (attribut) | 3-Phosphoglycerate dehydrogenase deficiency | true | Inferred relationship | Some | ||
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| 3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR