{
  "concept_id": 4644,
  "concept_version_id": 12127,
  "coding_system": {
    "id": 4,
    "name": "ICD10 codes",
    "description": "ICD10 Codes"
  },
  "name": "Genetic, mitochondrial and chromosomal disorders with associated epilepsy",
  "description": null,
  "author": "",
  "entry_date": "2025-11-18",
  "validation_performed": false,
  "validation_description": null,
  "publication_doi": "",
  "publication_link": "",
  "secondary_publication_links": null,
  "paper_published": false,
  "source_reference": "",
  "citation_requirements": null,
  "owner_access": 3,
  "group_access": 1,
  "world_access": 1,
  "tags": null,
  "collections": null,
  "created_by": null,
  "modified_by": null,
  "owner": null,
  "group": null,
  "phenotype_owner": "PH1927",
  "phenotype_owner_history_id": 4509,
  "requested_entity_id": null,
  "components": [
    {
      "id": 10770,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "application/vnd.openxmlformats-officedocument.spreadsheetml.sheet",
      "codes": [
        {
          "id": 646118,
          "code": "E754",
          "description": "Neuronal ceroid lipofuscinosis"
        },
        {
          "id": 646119,
          "code": "F842",
          "description": "Rett Syndrome"
        },
        {
          "id": 646120,
          "code": "No specific code",
          "description": "Angleman syndrome"
        },
        {
          "id": 646121,
          "code": "Q850",
          "description": "Neurofibromatosis"
        },
        {
          "id": 646122,
          "code": "Q851",
          "description": "Tuberous sclerosis"
        },
        {
          "id": 646123,
          "code": "Q90",
          "description": "Down syndrome"
        },
        {
          "id": 646124,
          "code": "Q900",
          "description": "Trisomy 21, meiotic nondisjunction"
        },
        {
          "id": 646125,
          "code": "Q901",
          "description": "Trisomy 21, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 646126,
          "code": "Q902",
          "description": "Trisomy 21, translocation"
        },
        {
          "id": 646127,
          "code": "Q909",
          "description": "Down syndrome, unspecified"
        },
        {
          "id": 646128,
          "code": "Q933",
          "description": "Deletion of short arm of chromosome 4 - Wolf-Hirchorn syndrome"
        },
        {
          "id": 646129,
          "code": "Q980",
          "description": "Klinefelter syndrome karyotype 47,XXY"
        },
        {
          "id": 646130,
          "code": "Q981",
          "description": "Klinefelter syndrome, male with more than two X chromosomes"
        },
        {
          "id": 646131,
          "code": "Q982",
          "description": "Klinefelter syndrome, male with 46,XX karyotype"
        },
        {
          "id": 646132,
          "code": "Q983",
          "description": "Other male with 46,XX karyotype"
        },
        {
          "id": 646133,
          "code": "Q984",
          "description": "Klinefelter syndrome, unspecified"
        },
        {
          "id": 646134,
          "code": "Q985",
          "description": "Karyotype 47,XYY"
        },
        {
          "id": 646135,
          "code": "Q992",
          "description": "Fragile X chromosome or syndrome"
        },
        {
          "id": 646136,
          "code": "E70%",
          "description": "Disorders of aromatic amino-acid metabolism"
        },
        {
          "id": 646137,
          "code": "E701",
          "description": "Classical phenylketonuria"
        },
        {
          "id": 646138,
          "code": "E71%",
          "description": "Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism"
        },
        {
          "id": 646139,
          "code": "E72%",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646140,
          "code": "E723",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646141,
          "code": "E74%",
          "description": "Other disorders of carbohydrate metabolism"
        },
        {
          "id": 646142,
          "code": "E75%",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646143,
          "code": "E700",
          "description": "Disorders of aromatic amino-acid metabolism"
        },
        {
          "id": 646144,
          "code": "E703",
          "description": "Disorders of aromatic amino-acid metabolism"
        },
        {
          "id": 646145,
          "code": "E710",
          "description": "Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism"
        },
        {
          "id": 646146,
          "code": "E750",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646147,
          "code": "E752",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646148,
          "code": "E713",
          "description": "Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism"
        },
        {
          "id": 646149,
          "code": "E720",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646150,
          "code": "E721",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646151,
          "code": "E722",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646152,
          "code": "E725",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646153,
          "code": "E728",
          "description": "Other disorders of amino-acid metabolism"
        },
        {
          "id": 646154,
          "code": "E743",
          "description": "Other disorders of carbohydrate metabolism"
        },
        {
          "id": 646155,
          "code": "E755",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646156,
          "code": "E778",
          "description": "Disorders of glycoprotein metabolism"
        },
        {
          "id": 646157,
          "code": "E760",
          "description": "Disorders of glycosaminoglycan metabolism"
        },
        {
          "id": 646158,
          "code": "E800",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646159,
          "code": "E807",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646160,
          "code": "E802",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646161,
          "code": "E801",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646162,
          "code": "E740",
          "description": "Other disorders of carbohydrate metabolism"
        },
        {
          "id": 646163,
          "code": "E751",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646164,
          "code": "E756",
          "description": "Disorders of sphingolipid metabolism and other lipid storage disorders"
        },
        {
          "id": 646165,
          "code": "E762",
          "description": "Disorders of glycosaminoglycan metabolism"
        },
        {
          "id": 646166,
          "code": "E763",
          "description": "Disorders of glycosaminoglycan metabolism"
        },
        {
          "id": 646167,
          "code": "E804",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646168,
          "code": "E806",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646169,
          "code": "E76%",
          "description": "Disorders of glycosaminoglycan metabolism"
        },
        {
          "id": 646170,
          "code": "E77%",
          "description": "Disorders of glycoprotein metabolism"
        },
        {
          "id": 646171,
          "code": "E80%",
          "description": "Disorders of porphyrin and bilirubin metabolism"
        },
        {
          "id": 646172,
          "code": "Q858",
          "description": "Other phakomatoses, not elsewhere classified"
        },
        {
          "id": 646173,
          "code": "Q859",
          "description": "Phakomatoses, unspecified"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 12127,
      "version_name": "Genetic, mitochondrial and chromosomal disorders with associated epilepsy",
      "version_date": "2025-11-19T14:47:18.811423Z",
      "is_published": true,
      "is_latest": true
    }
  ]
}