Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305036012 | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305037015 | Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305038013 | Thong Douglas Ferrante syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305039017 | This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 3 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome, moderate short stature, facial | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est un(e) (attribut) | Heritable disorder of neutrophil function (disorder) | true | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 4 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | est défini par la manifestation de (attribut) | Immune system finding | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 2 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 5 | |
| Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR