Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3321966019 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321967011 | DOORS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322719010 | Autosomal recessive deafness onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322824019 | DOOR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322825018 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402209013 | A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402210015 | A rare multiple congenital anomalies-intellectual disability syndrome characterised by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3321966019 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3321966019 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3321967011 | DOORS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322719010 | Autosomal recessive deafness onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322719010 | Autosomal recessive deafness onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322824019 | DOOR syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322825018 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322825018 | Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322826017 | A multiple congenital anomalies, intellectual disability syndrome with characteristics of sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability and seizures. About 50 cases have been reported to date. Caused by mutations in the TBC1D24 gene (16p13.3) encoding a protein involved in the regulation of membrane trafficking. Inherited autosomal recessively. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402209013 | A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402210015 | A rare multiple congenital anomalies-intellectual disability syndrome characterised by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3421281001000110 | DOORS-Syndrom | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986391000241117 | syndrome DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986401000241119 | syndrome de surdité, onychodystrophie, ostéodystrophie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986411000241117 | syndrome de surdité, onycho-ostéodystrophie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986391000241117 | syndrome DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986401000241119 | syndrome de surdité, onychodystrophie, ostéodystrophie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5986411000241117 | syndrome de surdité, onycho-ostéodystrophie et déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3421281001000110 | DOORS-Syndrom | 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)