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41799005 Hereditary retinal dystrophy

41799005 Hereditary retinal dystrophy

Owned by Arvind Kuppusamy
Last updated: Jul 16, 2024

Summary

Text Definitions

  • Hereditary retinal dystrophy refers to a group of inherited eye disorders causing progressive vision loss due to the degeneration of the retina, the light-sensitive tissue at the back of the eye.

Descriptions

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  • Hereditary retinal dystrophy (disorder) [ 900000000000003001 Fully specified name en, en_GB ]

Parent Concepts

Child Concepts

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Defining Attributes

Refsets

None

Mapsets

Diagram

JSON Document

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    "conceptId": "41799005",
    "fsn": {
        "term": "Hereditary retinal dystrophy (disorder)",
        "lang": "en"
    },
    "active": true,
    "effectiveTime": "20220731",
    "definitionStatus": "PRIMITIVE",
    "descriptions": [
        {
            "active": true,
            "term": "Hereditary retinal dystrophy (disorder)",
            "typeId": "900000000000003001",
            "acceptabilityMap": {
                "900000000000508004": "Preferred (foundation metadata concept)",
                "900000000000509007": "Preferred (foundation metadata concept)"
            }
        }
    ],
    "relationships": [
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            },
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                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Anomaly of eye (disorder)"
                }
            },
            "groupId": 0
        },
        {
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            },
            "target": {
                "conceptId": "29555009",
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                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Retinal disorder (disorder)"
                }
            },
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                    "term": "Hereditary disease (disorder)"
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        },
        {
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            "typeId": "116676008",
            "type": {
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                "fsn": {
                    "term": "Associated morphology (attribute)"
                }
            },
            "target": {
                "conceptId": "49755003",
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                "definitionStatus": "PRIMITIVE",
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                    "term": "Morphologically abnormal structure (morphologic abnormality)"
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            "target": {
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                    "term": "Structure of eye proper (body structure)"
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}

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