Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2022. 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 |
| 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 |
| 4212381000052110 | okulär albinism med kongenital sensorineural dövhet | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| okulär albinism med kongenital sensorineural dövhet | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 1 | |
| okulär albinism med kongenital sensorineural dövhet | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| okulär albinism med kongenital sensorineural dövhet | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| okulär albinism med kongenital sensorineural dövhet | Is a | Ocular albinism | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| okulär albinism med kongenital sensorineural dövhet | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
| okulär albinism med kongenital sensorineural dövhet | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| okulär albinism med kongenital sensorineural dövhet | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| okulär albinism med kongenital sensorineural dövhet | Is a | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Is a | Congenital sensorineural hearing loss (disorder) | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Interprets | Hearing | false | Inferred relationship | Some | 4 | |
| okulär albinism med kongenital sensorineural dövhet | Associated morphology | Decreased melanin pigmentation | false | Inferred relationship | Some | 3 | |
| okulär albinism med kongenital sensorineural dövhet | Finding site | Eye structure | false | Inferred relationship | Some | 3 | |
| okulär albinism med kongenital sensorineural dövhet | Is a | Congenital oculocutaneous hypopigmentation | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Associated morphology | Hypopigmentation | false | Inferred relationship | Some | 2 | |
| okulär albinism med kongenital sensorineural dövhet | Is a | Waardenburg syndrome type 2 (disorder) | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Finding site | Ear structure | false | Inferred relationship | Some | 1 | |
| okulär albinism med kongenital sensorineural dövhet | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| okulär albinism med kongenital sensorineural dövhet | Is a | Decreased hearing (finding) | false | Inferred relationship | Some | ||
| okulär albinism med kongenital sensorineural dövhet | Has interpretation | Decreased | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR