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 |
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 | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | 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 | survenue (attribut) | congénital | 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 | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | 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 | localisation d'une constatation (attribut) | main | true | Inferred relationship | Some | 3 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | pied (structure corporelle) | 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 | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | Entire lesser toe | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | Entire finger | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Adactyly | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | 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 | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Congenital cleft hand | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Split foot | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | pied (structure corporelle) | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | main | false | Inferred relationship | Some | 7 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | morphologie associée (attribut) | Congenital absence | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | localisation d'une constatation (attribut) | Entire digit | false | Inferred relationship | Some | 8 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 6 | |
Split hand, split foot malformation with sensorineural hearing loss syndrome | morphologie associée (attribut) | Developmental failure of fusion (morphologic abnormality) | false | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set