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 |
| 3302940010 | Tibial aplasia and ectrodactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302941014 | Tibial aplasia and ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302942019 | Aplasia of tibia with split hand split foot deformity | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302943012 | Tibial hemimelia ectrodactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302944018 | Split hand foot malformation with long bone deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6968461000146116 | syndroom van aplasie van tibia en ectrodactylie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6968471000146110 | syndroom van aplasie van tibia en ectrodactylie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7908881000146112 | syndroom van aplasie van tibia en afwijkingen van gespleten hand en gespleten voet | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3302946016 | A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Ectrodactyly | true | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Congenital anomaly of tibia | false | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Finding site | Entire digit | true | Inferred relationship | Some | 2 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Associated morphology | Aplasia | false | Inferred relationship | Some | 3 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Finding site | Bone structure of tibia | false | Inferred relationship | Some | 3 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Associated morphology | Aplasia | true | Inferred relationship | Some | 1 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Finding site | Bone structure of tibia | true | Inferred relationship | Some | 1 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Absence of tibia | false | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Tibial aplasia and ectrodactyly syndrome (disorder) | Is a | Congenital absence of tibia | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR