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 |
3315205019 | Syndromic X-linked intellectual disability type 7 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3315207010 | Syndromic X-linked intellectual disability type 7 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3315208017 | X-linked intellectual disability Ahmad type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401978013 | A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401979017 | A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315205019 | Syndromic X-linked intellectual disability type 7 (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3315207010 | Syndromic X-linked intellectual disability type 7 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3315208017 | X-linked intellectual disability Ahmad type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3315209013 | This syndrome has characteristics of X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. It has been described in ten males from a large Pakistani family. The causative gene has been located to Xp11.3-Xq23. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401978013 | A rare, X-linked syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localized to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401979017 | A rare, X-linked syndromic intellectual disability disorder characterised by mild to moderate intellectual disability, obesity, hypogonadism, tapering fingers and microphallus with small or undescended testes, localised to Xp11.3-Xq23. Additional variable manifestations include alopecia, dental and eyesight anomalies, speech disabilities, and decreased body strength. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3384701001000110 | Intelligenzminderung, X-chromosomale, syndromale Typ 7 | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
909821000172111 | déficience intellectuelle liée à l'X syndromique type 7 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1011631000172116 | déficience intellectuelle liée à l'X type Ahmad | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
909821000172111 | déficience intellectuelle liée à l'X syndromique type 7 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
1011631000172116 | déficience intellectuelle liée à l'X type Ahmad | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3384701001000110 | Intelligenzminderung, X-chromosomale, syndromale Typ 7 | 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)