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 |
3498233011 | Auricular abnormality, cleft lip, ocular abnormality syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498234017 | Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403422011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403423018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3498233011 | Auricular abnormality, cleft lip, ocular abnormality syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498234017 | Auricular abnormality, cleft lip, ocular abnormality syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499909016 | The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403422011 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403423018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate. Additional manifestations include myopia, nystagmus, and retinal pigment abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3439811001000118 | Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5787261000241112 | syndrome d'anomalies de l'oreille, fente labiale ou labiopalatine et anomalies oculaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
5787261000241112 | syndrome d'anomalies de l'oreille, fente labiale ou labiopalatine et anomalies oculaires | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3439811001000118 | Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien | 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)