Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
| 3321502013 | CATSHL (camptodactyly, tall stature, scoliosis, hearing loss) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Acceptable (foundation metadata concept) |
| 3321504014 | Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3321505010 | Camptodactyly and tall stature with scoliosis and hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3321503015 | This syndrome has characteristics of camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core | GB English: Preferred (foundation metadata concept) |
| 3918851000052111 | syndrom med kamptodaktyli, högväxthet med skolios och hörselnedsättning | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) | Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Camptodactyly | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Congenital abnormal shape of digit | false | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Dysostosis | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Congenital deformity | false | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 4 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | Developmental anomaly (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Finger structure | false | Inferred relationship | Some | 6 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | medfödd flexionsdeformitet | false | Inferred relationship | Some | 5 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Musculoskeletal structure of digit of hand | false | Inferred relationship | Some | 5 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 7 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 7 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 3 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Finger structure | true | Inferred relationship | Some | 2 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Musculoskeletal structure of digit of hand | true | Inferred relationship | Some | 1 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | kongenital dysplasi | false | Inferred relationship | Some | 3 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | Flexion deformity | false | Inferred relationship | Some | 1 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Congenital anomaly of finger | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Associated morphology | Fixed flexion deformity (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 4 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Congenital hearing disorder | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 5 | |
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Flexion deformity of hand | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Finding of musculoskeletal structure of digit of hand | true | Inferred relationship | Some | ||
| Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR