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 |
| 3443216018 | Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3993701000052114 | mikrocefal osteodysplastisk primordial kortvuxenhet, typ 1 och 3 | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) | Is a | mikrocefali | 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 | true | 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 | kongenital dysplasi | 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 | kongenital dysplasi | 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 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR