Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4965391018 | A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399848016 | A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399849012 | A rare multiple congenital anomalies syndrome characterised by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4965380013 | Autosomal dominant deafness with onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4965381012 | Autosomal dominant deafness with onychodystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4965384016 | Autosomal dominant hearing loss, onychodystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4965385015 | DDOD (dominant deafness onychodystrophy) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Is a | A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Finding site | Ectoderm structure | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Finding site | Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate. | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Some | 5 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 5 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Interprets | Intellectual ability | true | Inferred relationship | Some | 6 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 7 | |
| A rare multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small or absent terminal phalanges. | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR