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 |
6731051000146116 | syndroom van gespleten hand, gespleten voet en doofheid | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
6731061000146118 | syndroom van gespleten hand, gespleten voet en doofheid (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3499905010 | An extremely rare genetic syndrome with clinical characteristics of split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. There is evidence this syndrome may be caused by homozygous mutation in the DLX5 gene on chromosome 7q21. | 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 | observatie betreffende functioneren | 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 | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set