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 |
| 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