Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
3498171013 | Split hand, split foot malformation with sensorineural hearing loss syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3498172018 | Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion | 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 | 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 | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Congenital absence | 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 | 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 | 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 | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Absence | 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 | 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 | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Finding site | Structure of auditory system | 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 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 | 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 | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | Associated morphology | Developmental failure of fusion | false | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set