Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3324656012 | Hirschsprung disease with deafness and polydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324657015 | Hirschsprung disease with deafness and polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3324658013 | Santos Mateus Leal syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
757081000241118 | syndrome de maladie de Hirschsprung-polydactylie-surdité (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
876221000172116 | syndrome de maladie de Hirschsprung-polydactylie-surdité | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
912021000172110 | syndrome de Santos-Mateus-Leal | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3324659017 | An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Colon structure | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Colon structure | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | Supernumerary structure | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | true | Inferred relationship | Some | 1 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | hypertrophie | true | Inferred relationship | Some | 2 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | dilatation | true | Inferred relationship | Some | 3 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 6 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Structure of peripheral part of autonomic nervous system (body structure) | true | Inferred relationship | Some | 7 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 7 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 7 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 7 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Hirschsprung's disease | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Digestive system hereditary disorder | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | polydactylie | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Parasympathetic nervous system structure | false | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Autonomic nerve structure | true | Inferred relationship | Some | 4 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 5 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Colon structure | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Colon structure | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | Congenital dilatation (morphologic abnormality) | false | Inferred relationship | Some | 8 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | Congenital hypertrophy | false | Inferred relationship | Some | 9 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Inherited autonomic nervous system disorder (disorder) | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | est un(e) (attribut) | Congenital dilatation of colon | true | Inferred relationship | Some | ||
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 10 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | morphologie associée (attribut) | Supernumerary structure | false | Inferred relationship | Some | 10 | |
Hirschsprung disease with deafness and polydactyly syndrome (disorder) | localisation d'une constatation (attribut) | Digit structure | false | Inferred relationship | Some | 10 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets