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 |
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 |
Ocular albinism with congenital sensorineural deafness | Finding site | Structure of auditory system (body structure) | false | Inferred relationship | Some | 1 | |
Ocular albinism with congenital sensorineural deafness | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Ocular albinism with congenital sensorineural deafness | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Ocular albinism with congenital sensorineural deafness | Is a | Ocular albinism | true | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Ocular albinism with congenital sensorineural deafness | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
Ocular albinism with congenital sensorineural deafness | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Ocular albinism with congenital sensorineural deafness | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Ocular albinism with congenital sensorineural deafness | Is a | Genetic disorder of skin pigmentation (disorder) | false | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
Ocular albinism with congenital sensorineural deafness | Associated morphology | Decreased melanin pigmentation | true | Inferred relationship | Some | 3 | |
Ocular albinism with congenital sensorineural deafness | Finding site | Eye structure | true | Inferred relationship | Some | 3 | |
Ocular albinism with congenital sensorineural deafness | Is a | Congenital oculocutaneous hypopigmentation | true | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Associated morphology | Hypopigmentation | true | Inferred relationship | Some | 2 | |
Ocular albinism with congenital sensorineural deafness | Is a | Waardenburg syndrome type 2 (disorder) | true | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Finding site | Ear structure | true | Inferred relationship | Some | 1 | |
Ocular albinism with congenital sensorineural deafness | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Ocular albinism with congenital sensorineural deafness | Is a | Decreased hearing (finding) | true | Inferred relationship | Some | ||
Ocular albinism with congenital sensorineural deafness | Has interpretation | Decreased | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets