Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3663000011 | Carney complex, trismus, pseudocamptodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3663001010 | Carney complex variant | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3663002015 | Carney complex, trismus, pseudocamptodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
6599381000146118 | Carney-complexvariant | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6747751000146114 | syndroom van Carney-complex, trismus en pseudocamptodactylie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6747761000146112 | syndroom van Carney-complex, trismus en pseudocamptodactylie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8258911000146113 | syndroom van LAMB-syndroom, trismus en distale arthrogryposis | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
8258921000146115 | syndroom van NAME-syndroom, trismus en distale arthrogryposis | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3663003013 | A rare genetic heart-hand syndrome with characteristics of typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Dysostosis | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Heart structure | true | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | congenitale hyperpigmentatie | false | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Myxoma of heart (disorder) | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | Myxomatous neoplasm | true | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Congenital anomaly of limb | false | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Congenital cardiovascular disorder (disorder) | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Degenerative disorder | false | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Bone structure of extremity | false | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Skin structure | true | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Bone structure of extremity | true | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | Myxomatous neoplasm | false | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Congenital heart disease | false | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 3 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
Carney complex, trismus, pseudocamptodactyly syndrome | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets