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 |
| 3320658017 | A very rare congenital malformation syndrome with the association of facial and skeletal anomalies, severe intellectual deficit and occasional genitourinary anomalies. The cranio-facial malformations are numerous and variable and include brachycephaly or microbrachycephaly. Other skeletal malformations are also present, with syndactyly of fingers, hypoplastic toes, anomalies of feet structure and fibular hypoplasia. Short stature may be observed. Eye anomalies include bilateral ptosis, cataract and congenital glaucoma. In some male patients, hypospadias and bifid scrotum are reported. Patients suffer from potentially severe intellectual deficit and present with anomalies of the cortical gyration. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402310017 | A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402311018 | A rare congenital malformation syndrome characterised by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3320654015 | Acrofrontofacionasal dysostosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320655019 | Acrofrontofacionasal dysostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320656018 | Acro-fronto-facio-nasal dysostosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3320657010 | Richieri Costa Colletto syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Dysostosis of bone of skull | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Bone structure of cranium | true | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 4 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Limb structure | false | Inferred relationship | Some | 4 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 5 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Face structure | false | Inferred relationship | Some | 5 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Limb structure | false | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Lesion of face | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Bone structure of cranium | false | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Finding site | Limb structure | true | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Is a | Congenital dysplasia of limb (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. | Is a | False | A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR