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 |
3498170014 | Congenital deafness with split hands and feet | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498171013 | Split hand, split foot malformation with sensorineural hearing loss syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3498172018 | Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5403128017 | Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5403129013 | Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterised clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Congenital cleft hand | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Split foot | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Interprets | Hearing | true | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Interprets | Functional observable | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Foot structure | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Hand structure | false | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Entire digit | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Congenital absence (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Entire digit | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Hand structure | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Foot structure | true | Inferred relationship | Some | 1 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Entire lesser toe | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Entire finger | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Adactyly | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set