Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3424469017 | Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3424470016 | Multinodular goiter, cystic kidney, polydactyly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424471017 | Multinodular goitre, cystic kidney, polydactyly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424472012 | Daneman Davy Mancer syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3424473019 | Thyroid, renal, digital anomaly syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3424474013 | A very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalized thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goiter and/or digitalized thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. | en | Definition | Active | Case sensitive | SNOMED CT core |
3424475014 | A very rare syndrome characterised by the association of multinodular goitre, cystic renal disease and digital anomalies. It has been described in two siblings and one unrelated child. The two siblings had digitalised thumbs and preaxial polydactyly, the third child had normal thumbs and postaxial polydactyly. Goitre and/or digitalised thumbs and/or polydactyly were present in other members of families. This syndrome seems to be transmitted as an autosomal dominant trait with variable expression and incomplete penetrance. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Congenital anomaly of the thyroid gland | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Kidney structure | true | Inferred relationship | Some | 3 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Nodular hyperplasia | false | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Thyroid structure | false | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Polycystic change | true | Inferred relationship | Some | 3 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Autosomal dominant polycystic kidney disease | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Entire thyroid gland | true | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Enlargement | true | Inferred relationship | Some | 2 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Thyroid structure | true | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Multinodular hyperplasia | true | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Polycystic kidney disease | false | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Multinodular goitre | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Congenital anomaly of digit | true | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Is a | Hereditary nephropathy | false | Inferred relationship | Some | ||
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Nodular hyperplasia | false | Inferred relationship | Some | 5 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Thyroid structure | false | Inferred relationship | Some | 5 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Digit structure | false | Inferred relationship | Some | 4 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Enlargement | false | Inferred relationship | Some | 7 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Entire thyroid gland | false | Inferred relationship | Some | 7 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Associated morphology | Polycystic change | false | Inferred relationship | Some | 6 | |
Multinodular goitre, cystic kidney, polydactyly syndrome | Finding site | Kidney structure | false | Inferred relationship | Some | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set