Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424470016 | Multinodular goiter, cystic kidney, polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424471017 | Multinodular goitre, cystic kidney, polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3424472012 | Daneman Davy Mancer syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3424473019 | Thyroid, renal, digital anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 759361000241119 | syndrome de goitre multinodulaire-rein kystique-polydactylie (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 870191000172110 | syndrome de goitre multinodulaire-rein kystique-polydactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 909021000172116 | anomalies thyroïde-rein-doigts | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of the thyroid gland | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | true | Inferred relationship | Some | 1 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | anomalie congénitale des reins | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | true | Inferred relationship | Some | 3 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Nodular hyperplasia | false | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la thyroïde | false | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Polycystic change | true | Inferred relationship | Some | 3 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Autosomal dominant polycystic kidney disease (disorder) | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Entire thyroid gland | true | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la thyroïde | true | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Multinodular hyperplasia | true | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Multiple congenital cysts of kidney | false | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Multinodular goitre | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of digit (disorder) | true | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | est un(e) (attribut) | Hereditary nephropathy (disorder) | false | Inferred relationship | Some | ||
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Nodular hyperplasia | false | Inferred relationship | Some | 5 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure de la thyroïde | false | Inferred relationship | Some | 5 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | false | Inferred relationship | Some | 4 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Enlargement (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Entire thyroid gland | false | Inferred relationship | Some | 7 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | morphologie associée (attribut) | Polycystic change | false | Inferred relationship | Some | 6 | |
| Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un rein | false | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada French language reference set (foundation metadata concept)
FHIR