Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5283692013 | Neurocutaneous syndrome Bicknell type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5283693015 | Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5283694014 | P5CS deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5283695010 | Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5283696011 | Delta-1-pyrroline 5-carboxylate synthetase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5283697019 | ALDH18A1-related de Barsy syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5283698012 | Autosomal recessive cutis laxa type IIIa | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5283699016 | A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Is a | de Barsey syndrome | true | Inferred relationship | Some | ||
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Finding site | Joint structure | true | Inferred relationship | Some | 8 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Interprets | Reflex | true | Inferred relationship | Some | 7 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 7 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Finding site | Corneal structure | true | Inferred relationship | Some | 1 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Finding site | Connective tissue structure | true | Inferred relationship | Some | 3 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 4 | |
| Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR