Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
26374019 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
742396013 | Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process | Pathological developmental process | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Cataract | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Abnormally opaque structure | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Has interpretation | Abnormal | true | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Interprets | Bone formation | true | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of head | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Interprets | Birth head circumference | true | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Congenital microcephaly | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Congenital anomaly of eye | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Ear, face and neck congenital anomalies | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Congenital cataract | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Microcephalus | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Osteogenesis imperfecta, recessive perinatal lethal | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Abnormally opaque structure | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Osteogenesis imperfecta, perinatal lethal | true | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital smallness | false | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Congenital anomaly of visual system | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Is a | Congenital anomaly of brain | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Entire brain | false | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital cataract | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 5 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital dysplasia | false | Inferred relationship | Some | 3 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | true | Inferred relationship | Some | 4 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital smallness | true | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Brain structure | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Brain structure | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Dysplasia | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Connective tissue structure | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Occurrence | Congenital | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Skeletal system structure | false | Inferred relationship | Some | 1 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital smallness | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Connective tissue | false | Inferred relationship | Some | ||
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Finding site | Structure of lens of eye | false | Inferred relationship | Some | 2 | |
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts | Associated morphology | Congenital opacity | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set