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 |
| 3437863010 | Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437864016 | Infantile osteopetrosis with neuroaxonal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437865015 | Infantile osteopetrosis with neuroaxonal dysplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437866019 | This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | morphologie associée (attribut) | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | true | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | interprète (attribut) | Osteoclast turnover rate (observable entity) | true | Inferred relationship | Some | 3 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Osteopetrosis | true | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | agénésie du corps calleux (trouble) | true | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 2 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 3 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | false | Inferred relationship | Some | 3 | |
| Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Entire corpus callosum | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR