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 |
5403281017 | This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403282012 | This syndrome is characterised by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
5403281017 | This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403282012 | This syndrome is characterised by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3433861001000118 | Osteopetrose mit neuroaxonaler Dysplasie, infantile Form | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6266121000241118 | syndrome d'ostéopétrose infantile avec dysplasie neuroaxonale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
6266121000241118 | syndrome d'ostéopétrose infantile avec dysplasie neuroaxonale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3433861001000118 | Osteopetrose mit neuroaxonaler Dysplasie, infantile Form | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)