Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302775019 | Microcephalic primordial dwarfism of Toriello type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302776018 | Microcephalic primordial dwarfism of Toriello type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302778017 | Microcephalic primordial dwarfism Toriello type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3302777010 | Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3856141000052117 | mikrocefal primordial kortvuxenhet, Toriellotyp | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | mikrocefali | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 3 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism of Toriello type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR