Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3302793018 | Autosomal recessive distal osteolysis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302794012 | Autosomal recessive distal osteolysis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302795013 | Distal osteolysis, short stature and intellectual disability | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3302796014 | Petit Fryns syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400927012 | An early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400928019 | An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Multiple malformation syndrome with facial-limb defects as major feature | true | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Osteolysis | true | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Connective tissue hereditary disorder (disorder) | false | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Limb structure | false | Inferred relationship | Some | 5 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Limb structure | true | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Osteolysis (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 4 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Osteolysis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Autosomal recessive distal osteolysis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR