/
19133005 Neurofibromatosis syndrome

19133005 Neurofibromatosis syndrome

Owned by Arvind Kuppusamy
Last updated: Jul 16, 2024

Summary

Text Definitions

None

Descriptions

   Suggest Synonym
  • Neurofibromatosis syndrome (disorder) [ 900000000000003001 Fully specified name en, en_GB ]

Parent Concepts

  • 94963005 Neoplasm of uncertain behavior of nervous system
  • 95087004 Neoplasm of uncertain behaviour of skin

Child Concepts

   Suggest Child Concept

Defining Attributes

Refsets

  • 450970008 General Practice / Family Practice reference set 2022

Mapsets

Diagram

JSON Document

{
    "conceptId": "19133005",
    "fsn": {
        "term": "Neurofibromatosis syndrome (disorder)",
        "lang": "en"
    },
    "active": true,
    "effectiveTime": "20220731",
    "definitionStatus": "PRIMITIVE",
    "descriptions": [
        {
            "active": true,
            "term": "Neurofibromatosis syndrome (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": "78572006",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Neurocutaneous syndrome (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "94963005",
                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Neoplasm of uncertain behavior of nervous system (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116680003",
            "type": {
                "conceptId": "116680003",
                "fsn": {
                    "term": "Is a (attribute)"
                }
            },
            "target": {
                "conceptId": "95087004",
                "active": true,
                "definitionStatus": "FULLY_DEFINED",
                "fsn": {
                    "term": "Neoplasm of uncertain behavior of skin (disorder)"
                }
            },
            "groupId": 0
        },
        {
            "active": true,
            "typeId": "116676008",
            "type": {
                "conceptId": "116676008",
                "fsn": {
                    "term": "Associated morphology (attribute)"
                }
            },
            "target": {
                "conceptId": "81669005",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Neurofibromatosis (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": "25087005",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Structure of nervous system (body structure)"
                }
            },
            "groupId": 1
        },
        {
            "active": true,
            "typeId": "116676008",
            "type": {
                "conceptId": "116676008",
                "fsn": {
                    "term": "Associated morphology (attribute)"
                }
            },
            "target": {
                "conceptId": "81669005",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Neurofibromatosis (morphologic abnormality)"
                }
            },
            "groupId": 2
        },
        {
            "active": true,
            "typeId": "246454002",
            "type": {
                "conceptId": "246454002",
                "fsn": {
                    "term": "Occurrence (attribute)"
                }
            },
            "target": {
                "conceptId": "255399007",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Congenital (qualifier value)"
                }
            },
            "groupId": 2
        },
        {
            "active": true,
            "typeId": "363698007",
            "type": {
                "conceptId": "363698007",
                "fsn": {
                    "term": "Finding site (attribute)"
                }
            },
            "target": {
                "conceptId": "39937001",
                "active": true,
                "definitionStatus": "PRIMITIVE",
                "fsn": {
                    "term": "Skin structure (body structure)"
                }
            },
            "groupId": 2
        }
    ]
}

Related content