78314001 Osteogenesis imperfecta

Summary

Status: Active
Version: 20220731
Last Changed: 2022-07-31
definitionStatusId: 900000000000073002 | Defined
module: 999991001000101 | IPS terminology module

Text Definitions

None

Descriptions

Suggest Synonym

Osteogenesis imperfecta [ 900000000000013009 Synonym en, en_GB ]

Osteopsathyrosis [ 900000000000013009 Synonym en, en_GB ]

Fragilitas ossium [ 900000000000013009 Synonym en, en_GB ]

Brittle bone syndrome [ 900000000000013009 Synonym en, en_GB ]

Brittle bone disease [ 900000000000013009 Synonym en_GB, en ]

OI - Osteogenesis imperfecta [ 900000000000013009 Synonym en, en_GB ]

Osteogenesis imperfecta (disorder) [ 900000000000003001 Fully specified name en_GB, en ]

Parent Concepts

118228005 Functional finding

276654001 Congenital malformation

76069003 Disorder of bone

782964007 Genetic disease

Child Concepts

Suggest Child Concept

None

Defining Attributes

Role Group: 1

370135005 Pathological process => 308490002 Pathological developmental process

Role Group: 2

363714003 Interprets => 83323007 Bone formation

Refsets

787778008 Global Patient Set 2022

450970008 General Practice / Family Practice reference set 2022

Mapsets

6011000124106 ICD-10-CM complex map reference set

Diagram

Browser Links

West Coast Informatics Browser - https://ips.terminology.tools/terminology-ui/index.html#/terminology?terminology=SNOMEDCT&code=78314001#content
SNOMED IPS Browser - https://ips-browser.ihtsdotools.org/?perspective=full&conceptId1=78314001&edition=MAIN/2022-07-31

JSON Document

{
    "conceptId": "78314001",
    "fsn": {
        "term": "Osteogenesis imperfecta (disorder)",
        "lang": "en"
    },
    "active": true,
    "effectiveTime": "20220731",
    "definitionStatus": "FULLY_DEFINED",
    "descriptions": [
        {
            "active": true,
            "term": "Osteogenesis imperfecta (disorder)",
            "typeId": "900000000000003001",
            "acceptabilityMap": {
                "900000000000508004": "Preferred (foundation metadata concept)",
                "900000000000509007": "Preferred (foundation metadata concept)"
            }
        }
    ],
    "relationships": [
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "118228005",
                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Functional finding (finding)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "276654001",
                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Congenital malformation (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "76069003",
                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Disorder of bone (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "782964007",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Genetic disease (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116676008",
            "type": {
                "conceptId": "116676008",
                "fsn": {
                    "term": "Associated morphology (attribute)"
                }
            },
            "target": {
                "conceptId": "25723000",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Dysplasia (morphologic abnormality)"
                }
            },
            "groupId": 1
        },
        {
            "active": true,
            "typeId": "246454002",
            "type": {
                "conceptId": "246454002",
                "fsn": {
                    "term": "Occurrence (attribute)"
                }
            },
            "target": {
                "conceptId": "255399007",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Congenital (qualifier value)"
                }
            },
            "groupId": 1
        },
        {
            "active": true,
            "typeId": "363698007",
            "type": {
                "conceptId": "363698007",
                "fsn": {
                    "term": "Finding site (attribute)"
                }
            },
            "target": {
                "conceptId": "272673000",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Bone structure (body structure)"
                }
            },
            "groupId": 1
        },
        {
            "active": true,
            "typeId": "370135005",
            "type": {
                "conceptId": "370135005",
                "fsn": {
                    "term": "Pathological process (attribute)"
                }
            },
            "target": {
                "conceptId": "308490002",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Pathological developmental process (qualifier value)"
                }
            },
            "groupId": 1
        },
        {
            "active": true,
            "typeId": "363713009",
            "type": {
                "conceptId": "363713009",
                "fsn": {
                    "term": "Has interpretation (attribute)"
                }
            },
            "target": {
                "conceptId": "263654008",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Abnormal (qualifier value)"
                }
            },
            "groupId": 2
        },
        {
            "active": true,
            "typeId": "363714003",
            "type": {
                "conceptId": "363714003",
                "fsn": {
                    "term": "Interprets (attribute)"
                }
            },
            "target": {
                "conceptId": "83323007",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Bone formation, function (observable entity)"
                }
            },
            "groupId": 2
        }
    ]
}

SnomedExpo2023

78314001 Osteogenesis imperfecta

Summary

Text Definitions

Descriptions

Parent Concepts

Child Concepts

Defining Attributes

Refsets

Mapsets

Diagram

Browser Links

JSON Document

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