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128430005 X-linked hereditary disease

128430005 X-linked hereditary disease

Owned by Arvind Kuppusamy
Last updated: Jul 16, 2024

Summary

Text Definitions

  • X-linked hereditary disease refers to a genetic disorder caused by mutations in genes located on the X chromosome, inherited from a carrier mother or affected father, predominantly affecting males due to their single X chromosome.

Descriptions

   Suggest Synonym
  • X-linked hereditary disease (disorder) [ 900000000000003001 Fully specified name en_GB, en ]

Parent Concepts

Child Concepts

   Suggest Child Concept
  • 28293008 Hereditary factor VIII deficiency disease
  • 41788008 Hereditary factor IX deficiency disease

Defining Attributes

None

Refsets

None

Mapsets

Diagram

JSON Document

{
    "conceptId": "128430005",
    "fsn": {
        "term": "X-linked hereditary disease (disorder)",
        "lang": "en"
    },
    "active": true,
    "effectiveTime": "20220731",
    "definitionStatus": "PRIMITIVE",
    "descriptions": [
        {
            "active": true,
            "term": "X-linked hereditary disease (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": "32895009",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Hereditary disease (disorder)"
                }
            },
            "groupId": 0
        }
    ]
}

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