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 |
| 5400921013 | A rare disorder characterized by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400922018 | A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Is a | Microcephalus | 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 | false | 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 | |
| Microcephalic primordial dwarfism of Toriello type (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR