Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3643215011 | Scott craniodigital syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643216012 | Scott Bryant Graham syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643217015 | Craniodigital syndrome and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643218013 | Craniodigital syndrome and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643219017 | Syndrome with manifestations of syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. Less than 10 cases have been described in the literature so far. Abnormal dermatoglyphic patterns, growth retardation and brachycephaly have also been reported. Transmission appears to be autosomal or X-linked recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Craniodigital syndrome and intellectual disability syndrome | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Craniodigital syndrome and intellectual disability syndrome | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Craniodigital syndrome and intellectual disability syndrome | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
| Craniodigital syndrome and intellectual disability syndrome | Associated morphology | Congenital abnormal fusion | true | Inferred relationship | Some | 2 | |
| Craniodigital syndrome and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Craniodigital syndrome and intellectual disability syndrome | Finding site | Digit structure | true | Inferred relationship | Some | 2 | |
| Craniodigital syndrome and intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Craniodigital syndrome and intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Craniodigital syndrome and intellectual disability syndrome | Associated morphology | anomalie du développement | false | Inferred relationship | Some | 1 | |
| Craniodigital syndrome and intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Craniodigital syndrome and intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Craniodigital syndrome and intellectual disability syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Craniodigital syndrome and intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Craniodigital syndrome and intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Craniodigital syndrome and intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Craniodigital syndrome and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Craniodigital syndrome and intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Craniodigital syndrome and intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR