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 |
| 3724256010 | Ocular albinism with congenital sensorineural deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724257018 | Ocular albinism with congenital sensorineural deafness (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3724258011 | Waardenburg syndrome type 2 with ocular albinism | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 771621000241118 | albinisme oculaire avec surdité neurosensorielle congénitale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 905201000172117 | albinisme oculaire avec surdité neurosensorielle congénitale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 976711000172110 | syndrome de Waardenburg type 2 avec albinisme oculaire | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3724843013 | A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. White forelock, premature graying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724844019 | A rare genetic oculocutaneous disorder characterised by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalised hypopigmentation of the skin. White forelock, premature greying of hair, freckles, lentigines and cafe-au-lait macules are frequently associated. Other highly variable features include reduced visual acuity, strabismus and an iris transillumination defect. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR