Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3736404010 | Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736405011 | Blepharophimosis, intellectual disability syndrome, Verloes type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736406012 | Blepharophimosis, intellectual disability syndrome type V | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736407015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3736404010 | Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736405011 | Blepharophimosis, intellectual disability syndrome, Verloes type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736406012 | Blepharophimosis, intellectual disability syndrome type V | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736407015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
545621000274116 | Blepharophimose-Intelligenzminderung-Syndrom, Typ V | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
575291000274115 | Blepharophimose-Intelligenzminderung-Syndrom, Typ Verloes | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
932531000172111 | syndrome de blépharophimosis-déficience intellectuelle type Verloes | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
962451000172112 | BMRS type V | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
932531000172111 | syndrome de blépharophimosis-déficience intellectuelle type Verloes | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
962451000172112 | BMRS type V | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
545621000274116 | Blepharophimose-Intelligenzminderung-Syndrom, Typ V | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
575291000274115 | Blepharophimose-Intelligenzminderung-Syndrom, Typ Verloes | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3397611001000112 | Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes | 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 |
This concept is not in any reference sets