{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": [
        {
          "DisorderDisorderAssociationType": "Moved to",
          "RootDisorder": {
            "ORPHAcode": 1060,
            "Preferred term": "Systemic cystic angiomatosis-Seip syndrome"
          },
          "TargetDisorder": null
        }
      ],
      "DisorderFlag": [
        {
          "Label": null,
          "Value": 1
        }
      ],
      "DisorderGroup": "Disorder",
      "ExternalReference": [
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "13388",
          "Source": "GARD"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "E88.1",
          "Source": "ICD-10"
        },
        {
          "DisorderMappingICDRefUri": 641763399,
          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#641763399",
          "DisorderMappingICDRelation": "Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology)",
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "LD27.60",
          "Source": "ICD-11"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0018883",
          "Source": "MONDO"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "D052497",
          "Source": "MeSH"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "10053547",
          "Source": "MedDRA"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "269700",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "606721",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "608594",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "612526",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "613327",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C0221032",
          "Source": "UMLS"
        }
      ],
      "ORPHAcode": 528,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528",
      "Preferred term": "Congenital generalized lipodystrophy",
      "SummaryInformation": [
        {
          "Definition": "A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis."
        }
      ],
      "Synonym": [
        "BSCL",
        "Berardinelli-Seip congenital lipodystrophy",
        "Berardinelli-Seip syndrome",
        "CGL"
      ],
      "Typology": "Disease"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and cross-referencing"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 528
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/528"
}