Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5048597010 | Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048598017 | MRAMS (mental retardation, anterior maxillary protrusion, strabismus) syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5048599013 | Anterior maxillary protrusion, strabismus, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5048600011 | MRAMS syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5048603013 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of severe intellectual disability, strabismus and anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Mild cochlear hearing loss has been reported in addition. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
13700421000172119 | syndroom van naar voren uitstekende bovenkaak, scheelzien en verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13700431000172116 | syndroom van anterieure maxillaire protrusie, strabismus en mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
13700441000172111 | MRAMS-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
13700451000172113 | syndroom van anterieure protrusie van maxilla, strabismus en verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of tooth | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Crowding of teeth | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Congenital anomaly of maxilla | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Maxillary prognathism | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Strabismus | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Open bite | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Severe intellectual disability (disorder) | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Vertical maxillary excess | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Congenital prognathism | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Finding site | Structure of visual system (body structure) | true | Inferred relationship | Some | 5 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Finding site | Anterior segment of maxilla | true | Inferred relationship | Some | 1 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Associated morphology | Protrusion | true | Inferred relationship | Some | 1 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Finding site | Dentition | true | Inferred relationship | Some | 2 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Associated morphology | Malposition (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Finding site | Dentition | true | Inferred relationship | Some | 4 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Associated morphology | Malocclusion (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Finding site | Bone structure of maxilla | true | Inferred relationship | Some | 6 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Associated morphology | Growth alteration | true | Inferred relationship | Some | 6 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 7 | |
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 7 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets