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 |
5400950018 | Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400951019 | Tibial aplasia-ectrodactyly syndrome is a rare condition characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302940010 | Tibial aplasia and ectrodactyly syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
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 | Only initial character 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 | Only initial character 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 | Only initial character 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 | Only initial character 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 |
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 |
5400950018 | Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400951019 | Tibial aplasia-ectrodactyly syndrome is a rare condition characterised by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3441471001000113 | Tibiaaplasie - Ektrodaktylie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
883751000172117 | syndrome de tibia aplasique-ectrodactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
993831000172114 | aplasie du tibia avec anomalie des mains et pieds fendus | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
883751000172117 | syndrome de tibia aplasique-ectrodactylie | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
993831000172114 | aplasie du tibia avec anomalie des mains et pieds fendus | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3441471001000113 | Tibiaaplasie - Ektrodaktylie | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Ectrodactyly (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Congenital anomaly of tibia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Finding site | Entire digit | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Associated morphology | Aplasia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Finding site | Bone structure of tibia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | 3 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Associated morphology | Aplasia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Pathological process (attribute) | Pathological developmental process (qualifier value) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Finding site | Bone structure of tibia | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 1 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Existential restriction modifier (core metadata concept) | 2 | |
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Absence of tibia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Congenital absence of tibia | false | Inferred relationship | Existential restriction modifier (core metadata concept) | ||
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. | Is a | Aplasia of tibia (disorder) | true | Inferred relationship | Existential restriction modifier (core metadata concept) |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)