Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5449793015 | Kozlowski Tsuruta syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449794014 | Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5449795010 | Dysplastic cortical hyperostosis Kozlowski Tsuruta type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5449796011 | Dysplastic cortical hyperostosis Kozlowski Tsuruta type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening was reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5449797019 | Dysplastic cortical hyperostosis Kozlowski Tsuruta type is a form of rare dysplastic cortical hyperostosis characterised by narrow chest, short limbs with generalised, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening was reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Is a | Dysplastic cortical hyperostosis (disorder) | true | Inferred relationship | Some | ||
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Interprets | Bone density scan | true | Inferred relationship | Some | 2 | |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Has interpretation | Above reference range | true | Inferred relationship | Some | 2 | |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Finding site | Bone structure | true | Inferred relationship | Some | 1 | |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Dysplastic cortical hyperostosis Kozlowski Tsuruta type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR