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 |
| 3332208015 | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332209011 | Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332210018 | Da Silva syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332211019 | This syndrome has characteristics of hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission 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 |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Microcephalus | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Neoplasm of skin of ear | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Skin tag | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Hypoplasia of corpus callosum (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Benign tumor of external ear | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Benign neoplasm of skin of head and neck | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Auditory system hereditary disorder | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Mass of preauricular region (finding) | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Fibroepithelial polyp | true | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Skin structure of preauricular region | true | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Hypoplasia | false | Inferred relationship | Some | 5 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Corpus callosum structure | false | Inferred relationship | Some | 5 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Fibroepithelial polyp | false | Inferred relationship | Some | 4 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Skin structure of preauricular region | false | Inferred relationship | Some | 4 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Benign neoplasm of skin of face | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Congenital anomaly of skin | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Congenital anomaly of face (disorder) | false | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Corpus callosum structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 2 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 3 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Interprets | Birth head circumference | true | Inferred relationship | Some | 4 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) | Is a | Disorder involving the integument of fetus OR newborn | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR