Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304708017 | Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304709013 | Fibulo-ulnar hypoplasia and renal anomalies syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304710015 | Fibuloulnar hypoplasia with renal abnormalities | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3304711016 | Saito Kuba Tsuruta syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304712011 | This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
934781000172112 | syndrome d'hypoplasie péroné-cubitus-anomalies rénales | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
968041000172117 | syndrome de Saito-Kuba-Tsuruta | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
897151000172111 | fibulo-ulnaire hypoplasie, renale anomalieën | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
923881000172118 | syndroom van Saito-Kuba-Tsuruta | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Congenital anomaly of the kidney | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Congenital hypoplasia of fibula | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Congenital hypoplasia of ulna | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Finding site | Kidney structure | true | Inferred relationship | Some | 3 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 4 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Finding site | Bone structure of fibula | false | Inferred relationship | Some | 4 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 5 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Finding site | Bone structure of ulna | false | Inferred relationship | Some | 5 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Finding site | Bone structure of ulna | true | Inferred relationship | Some | 1 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Finding site | Bone structure of fibula | true | Inferred relationship | Some | 2 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Fibulo-ulnar hypoplasia and renal anomalies 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