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 |
3305237013 | Tetraamelia with multiple malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305238015 | Tetraamelia with multiple malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305239011 | Zimmer phocomelia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3305241012 | Tetra-amelia with multiple malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3305240013 | An extremely rare mostly lethal congenital disorder with characteristics of absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of Middle Eastern descent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Hereditary disease | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital complete absence of upper limb | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital complete absence of lower limb | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire upper limb | false | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire lower limb | false | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Tetraamelia with multiple malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Tetraamelia with multiple malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire left upper extremity | true | Inferred relationship | Some | 1 | |
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital deformity of bilateral upper limbs (disorder) | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Bilateral congenital deformity of lower limbs | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire left lower extremity | true | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire right lower extremity | true | Inferred relationship | Some | 4 | |
Tetraamelia with multiple malformation syndrome (disorder) | Finding site | Entire right upper extremity | true | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Tetraamelia with multiple malformation syndrome (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital absence of right lower limb (disorder) | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital absence of left lower limb (disorder) | false | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital complete absence of bilateral upper limbs (disorder) | true | Inferred relationship | Some | ||
Tetraamelia with multiple malformation syndrome (disorder) | Is a | Congenital complete absence of bilateral lower limbs | true | Inferred relationship | Some | ||
Tetraamelia with multiple malformation 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