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 |
| 3424446015 | Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3424447012 | Microcephalic osteodysplastic dysplasia Saul Wilson type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 759341000241115 | dysplasie ostéodysplasique microcéphalique type Saul-Wilson (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 978921000172116 | dysplasie ostéodysplasique microcéphalique type Saul-Wilson | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3424448019 | A skeletal dysplasia with distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (including irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 2 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Osteodysplastic primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | est un(e) (attribut) | Osteoplastic dysplasia (disorder) | true | Inferred relationship | Some | ||
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 3 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 4 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 5 | |
| Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR