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 |
3322158013 | Capra DeMarco syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322159017 | Capra DeMarco syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322160010 | Familial scaphocephaly with radioulnar synostosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322161014 | Berant syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322162019 | Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5402479010 | A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402480013 | A rare syndromic craniosynostosis characterised by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322158013 | Capra DeMarco syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322159017 | Capra DeMarco syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322160010 | Familial scaphocephaly with radioulnar synostosis syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322160010 | Familial scaphocephaly with radioulnar synostosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3322161014 | Berant syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3322162019 | Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3322163012 | Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402479010 | A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402480013 | A rare syndromic craniosynostosis characterised by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3423381001000119 | Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825821000241116 | syndrome de craniosynostose, hydrocéphalie, malformation d'Arnold-Chiari de type I et synostose radio-ulnaire | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825831000241119 | syndrome de Capra-DeMarco | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825841000241112 | syndrome de Berant | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825821000241116 | syndrome de craniosynostose, hydrocéphalie, malformation d'Arnold-Chiari de type I et synostose radio-ulnaire | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825831000241119 | syndrome de Capra-DeMarco | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5825841000241112 | syndrome de Berant | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3423381001000119 | Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose | 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)