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 |
| 3443211011 | Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443212016 | Microcephalic osteodysplastic primordial dwarfism types I and III | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443213014 | Microcephalic osteodysplastic primordial dwarfism Taybi Linder type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443214015 | Primordial microcephalic dwarfism Crachami type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3443215019 | Taybi Linder syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403478012 | A rare, severe, primary bone dysplasia characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403479016 | A rare, severe, primary bone dysplasia characterised by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Osteodysplastic primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Associated morphology | Abnormal smallness (morphologic abnormality) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR