{
  "concept_id": 4170,
  "concept_version_id": 11530,
  "coding_system": {
    "id": 4,
    "name": "ICD10 codes",
    "description": "ICD10 Codes"
  },
  "name": "Other congenital malformations and chromosomal abnormalities (ICD-10)",
  "description": null,
  "author": "",
  "entry_date": "2025-01-19",
  "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": "PH1712",
  "phenotype_owner_history_id": 3637,
  "requested_entity_id": null,
  "components": [
    {
      "id": 9997,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "text/csv",
      "codes": [
        {
          "id": 539240,
          "code": "Q87",
          "description": "Other specified congenital malformation syndromes affecting multiple systems"
        },
        {
          "id": 539241,
          "code": "Q870",
          "description": "Congenital malformation syndromes predominantly affecting facial appearance"
        },
        {
          "id": 539242,
          "code": "Q871",
          "description": "Congenital malformation syndromes predominantly associated with short stature"
        },
        {
          "id": 539243,
          "code": "Q872",
          "description": "Congenital malformation syndromes predominantly involving limbs"
        },
        {
          "id": 539244,
          "code": "Q873",
          "description": "Congenital malformation syndromes involving early overgrowth"
        },
        {
          "id": 539245,
          "code": "Q874",
          "description": "Marfan syndrome"
        },
        {
          "id": 539246,
          "code": "Q875",
          "description": "Other congenital malformation syndromes with other skeletal changes"
        },
        {
          "id": 539247,
          "code": "Q878",
          "description": "Other specified congenital malformation syndromes, not elsewhere classified"
        },
        {
          "id": 539248,
          "code": "Q878",
          "description": "Other+B28 specified congenital malformation syndromes, not elsewhere classified"
        },
        {
          "id": 539249,
          "code": "Q90",
          "description": "Down syndrome"
        },
        {
          "id": 539250,
          "code": "Q900",
          "description": "Trisomy 21, meiotic nondisjunction"
        },
        {
          "id": 539251,
          "code": "Q901",
          "description": "Trisomy 21, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 539252,
          "code": "Q902",
          "description": "Trisomy 21, translocation"
        },
        {
          "id": 539253,
          "code": "Q909",
          "description": "Down syndrome, unspecified"
        },
        {
          "id": 539254,
          "code": "Q91",
          "description": "Edwards syndrome and Patau syndrome"
        },
        {
          "id": 539255,
          "code": "Q910",
          "description": "Trisomy 18, meiotic nondisjunction"
        },
        {
          "id": 539256,
          "code": "Q911",
          "description": "Trisomy 18, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 539257,
          "code": "Q912",
          "description": "Trisomy 18, translocation"
        },
        {
          "id": 539258,
          "code": "Q913",
          "description": "Edwards syndrome, unspecified"
        },
        {
          "id": 539259,
          "code": "Q914",
          "description": "Trisomy 13, meiotic nondisjunction"
        },
        {
          "id": 539260,
          "code": "Q915",
          "description": "Trisomy 13, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 539261,
          "code": "Q916",
          "description": "Trisomy 13, translocation"
        },
        {
          "id": 539262,
          "code": "Q917",
          "description": "Patau syndrome, unspecified"
        },
        {
          "id": 539263,
          "code": "Q92",
          "description": "Other trisomies and partial trisomies of the autosomes, not elsewhere classified"
        },
        {
          "id": 539264,
          "code": "Q920",
          "description": "Whole chromosome trisomy, meiotic nondisjunction"
        },
        {
          "id": 539265,
          "code": "Q921",
          "description": "Whole chromosome trisomy, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 539266,
          "code": "Q922",
          "description": "Major partial trisomy"
        },
        {
          "id": 539267,
          "code": "Q923",
          "description": "Minor partial trisomy"
        },
        {
          "id": 539268,
          "code": "Q924",
          "description": "Duplications seen only at prometaphase"
        },
        {
          "id": 539269,
          "code": "Q925",
          "description": "Duplications with other complex rearrangements"
        },
        {
          "id": 539270,
          "code": "Q926",
          "description": "Extra marker chromosomes"
        },
        {
          "id": 539271,
          "code": "Q927",
          "description": "Other specified trisomies and partial trisomies of autosomes"
        },
        {
          "id": 539272,
          "code": "Q928",
          "description": "Trisomy and partial trisomy of autosomes, unspecified"
        },
        {
          "id": 539273,
          "code": "Q929",
          "description": "Trisomy and partial trisomy of autosomes, unspecified"
        },
        {
          "id": 539274,
          "code": "Q93",
          "description": "Monosomies and deletions from the autosomes, not elsewhere classified"
        },
        {
          "id": 539275,
          "code": "Q930",
          "description": "Whole chromosome monosomy, meiotic nondisjunction"
        },
        {
          "id": 539276,
          "code": "Q931",
          "description": "Whole chromosome monosomy, mosaicism (mitotic nondisjunction)"
        },
        {
          "id": 539277,
          "code": "Q932",
          "description": "Chromosome replaced with ring or dicentric"
        },
        {
          "id": 539278,
          "code": "Q933",
          "description": "Deletion of short arm of chromosome 4"
        },
        {
          "id": 539279,
          "code": "Q934",
          "description": "Deletion of short arm of chromosome 5"
        },
        {
          "id": 539280,
          "code": "Q935",
          "description": "Other deletions of part of a chromosome"
        },
        {
          "id": 539281,
          "code": "Q936",
          "description": "Deletions seen only at prometaphase"
        },
        {
          "id": 539282,
          "code": "Q937",
          "description": "Deletions with other complex rearrangements"
        },
        {
          "id": 539283,
          "code": "Q938",
          "description": "Other deletions from the autosomes"
        },
        {
          "id": 539284,
          "code": "Q939",
          "description": "Deletion from autosomes, unspecified"
        },
        {
          "id": 539285,
          "code": "Q952",
          "description": "Balanced autosomal rearrangement in abnormal individual"
        },
        {
          "id": 539286,
          "code": "Q96",
          "description": "Turner syndrome"
        },
        {
          "id": 539287,
          "code": "Q960",
          "description": "Karyotype 45,X"
        },
        {
          "id": 539288,
          "code": "Q961",
          "description": "Karyotype 46,X iso (Xq)"
        },
        {
          "id": 539289,
          "code": "Q962",
          "description": "Karyotype 46,X with abnormal sex chromosome, except iso (Xq)"
        },
        {
          "id": 539290,
          "code": "Q963",
          "description": "Mosaicism, 45,X/46,XX or XY"
        },
        {
          "id": 539291,
          "code": "Q964",
          "description": "Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome"
        },
        {
          "id": 539292,
          "code": "Q968",
          "description": "Other variants of Turner syndrome"
        },
        {
          "id": 539293,
          "code": "Q969",
          "description": "Turner syndrome, unspecified"
        },
        {
          "id": 539294,
          "code": "Q97",
          "description": "Other sex chromosome abnormalities, female phenotype, not elsewhere classified"
        },
        {
          "id": 539295,
          "code": "Q970",
          "description": "Karyotype 47,XXX"
        },
        {
          "id": 539296,
          "code": "Q971",
          "description": "Female with more than three X chromosomes"
        },
        {
          "id": 539297,
          "code": "Q972",
          "description": "Mosaicism, lines with various numbers of X chromosomes"
        },
        {
          "id": 539298,
          "code": "Q973",
          "description": "Female with 46,XY karyotype"
        },
        {
          "id": 539299,
          "code": "Q978",
          "description": "Other specified sex chromosome abnormalities, female phenotype"
        },
        {
          "id": 539300,
          "code": "Q979",
          "description": "Sex chromosome abnormality, female phenotype, unspecified"
        },
        {
          "id": 539301,
          "code": "Q980",
          "description": "Klinefelter syndrome karyotype 47,XXY"
        },
        {
          "id": 539302,
          "code": "Q99",
          "description": "Other chromosome abnormalities, not elsewhere classified"
        },
        {
          "id": 539303,
          "code": "Q990",
          "description": "Chimera 46,XX/46,XY"
        },
        {
          "id": 539304,
          "code": "Q991",
          "description": "46,XX true hermaphrodite"
        },
        {
          "id": 539305,
          "code": "Q992",
          "description": "Fragile X chromosome"
        },
        {
          "id": 539306,
          "code": "Q998",
          "description": "Other specified chromosome abnormalities"
        },
        {
          "id": 539307,
          "code": "Q999",
          "description": "Chromosomal abnormality, unspecified"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 11530,
      "version_name": "Other congenital malformations and chromosomal abnormalities (ICD-10)",
      "version_date": "2025-01-19T16:54:24.395996Z",
      "is_published": true,
      "is_latest": true
    }
  ]
}