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 |
| 3323439015 | Deafness and intellectual disability Martin Probst type syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3323440018 | Deafness and intellectual disability Martin Probst type syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3323441019 | Martin Probst syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323442014 | X-linked deafness and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323443016 | This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 3 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | X-linked sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Bilateral hearing loss | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | localisation d'une constatation (attribut) | face | false | Inferred relationship | Some | 4 | |
| Deafness and intellectual disability Martin Probst type syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR