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 |
3499401012 | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3499402017 | Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
12580471000146117 | syndroom van metafysaire dysostose, verstandelijke beperking en geleidingsgehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12580491000146118 | syndroom van metafysaire dysostose, mentale retardatie en geleidingsgehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12580501000146111 | syndroom van metafysaire dysostose, verstandelijke handicap en geleidingsgehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12849321000146111 | syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
12849331000146113 | syndroom van metafysaire dysostose, verstandelijke beperking en conductief gehoorverlies | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3499990010 | Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Metaphyseal chondrodysplasia | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Conductive hearing loss | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | mentale retardatie | false | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 5 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Finding site | Bone structure | false | Inferred relationship | Some | 5 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 6 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Finding site | Ear structure | true | Inferred relationship | Some | 1 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 2 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome | Is a | Congenital hearing loss (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets