{
  "concept_id": 4171,
  "concept_version_id": 11531,
  "coding_system": {
    "id": 5,
    "name": "Read codes v2",
    "description": "Read codes v2"
  },
  "name": "Other congenital malformations and chromosomal abnormalities (Read v2)",
  "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": 9998,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "text/csv",
      "codes": [
        {
          "id": 539310,
          "code": "C1zy200",
          "description": "Cerebral gigantism"
        },
        {
          "id": 539308,
          "code": "B33z100",
          "description": "Naevoid basal cell carcinoma syndrome"
        },
        {
          "id": 539309,
          "code": "B33z111",
          "description": "Basal cell naevus syndrome"
        },
        {
          "id": 539311,
          "code": "C1zy211",
          "description": "Sotos syndrome"
        },
        {
          "id": 539312,
          "code": "C302711",
          "description": "Klein-Waardenberg's syndrome"
        },
        {
          "id": 539313,
          "code": "D313200",
          "description": "Thrombocytopenic purpura with absent radius"
        },
        {
          "id": 539314,
          "code": "D313211",
          "description": "TAR syndrome"
        },
        {
          "id": 539315,
          "code": "F1y0.00",
          "description": "Fragile X associated tremor ataxia syndrome"
        },
        {
          "id": 539316,
          "code": "F326200",
          "description": "Moebius congenital oculofacial paralysis"
        },
        {
          "id": 539317,
          "code": "K032400",
          "description": "Familial glomerulonephritis in Alport's syndrome"
        },
        {
          "id": 539318,
          "code": "K032500",
          "description": "Other familial glomerulonephritis"
        },
        {
          "id": 539319,
          "code": "K260.11",
          "description": "Young's syndrome"
        },
        {
          "id": 539320,
          "code": "L251100",
          "description": "Fetus with chromosomal abnormality - delivered"
        },
        {
          "id": 539321,
          "code": "L251200",
          "description": "Fetus with chromosomal abnormality with antenatal problem"
        },
        {
          "id": 539322,
          "code": "P302.00",
          "description": "Cryptophthalmos syndrome"
        },
        {
          "id": 539323,
          "code": "P342300",
          "description": "Peters-plus syndrome"
        },
        {
          "id": 539324,
          "code": "PE00100",
          "description": "Asymmetrical crying face syndrome"
        },
        {
          "id": 539325,
          "code": "PF55.00",
          "description": "Acrocephalosyndactyly"
        },
        {
          "id": 539326,
          "code": "PF55.11",
          "description": "Apert's syndrome"
        },
        {
          "id": 539327,
          "code": "PF55.12",
          "description": "Acrocephalopolysyndactyly"
        },
        {
          "id": 539328,
          "code": "PF55000",
          "description": "Acrocephalosyndactyly (Apert)"
        },
        {
          "id": 539329,
          "code": "PF55100",
          "description": "Acrocephalosyndactyly (Pfeiffer)"
        },
        {
          "id": 539330,
          "code": "PF55200",
          "description": "Acrocephalopolysyndactyly"
        },
        {
          "id": 539331,
          "code": "PF55300",
          "description": "Saethre-Chotzen syndrome"
        },
        {
          "id": 539332,
          "code": "PG0C.00",
          "description": "Pierre - Robin syndrome"
        },
        {
          "id": 539333,
          "code": "PG0E.11",
          "description": "Hallerman - Streif syndrome"
        },
        {
          "id": 539334,
          "code": "PG0F.00",
          "description": "Goldenhar's syndrome"
        },
        {
          "id": 539335,
          "code": "PG0J.00",
          "description": "Pierre Robin association"
        },
        {
          "id": 539336,
          "code": "PG16000",
          "description": "Wilderwanck's syndrome"
        },
        {
          "id": 539337,
          "code": "PG42.14",
          "description": "Chondrodystophy NEC"
        },
        {
          "id": 539338,
          "code": "PG44300",
          "description": "Mesomelic dysplasia"
        },
        {
          "id": 539339,
          "code": "PGy3.00",
          "description": "Nail-patella syndrome"
        },
        {
          "id": 539340,
          "code": "PGy3.11",
          "description": "Osteo-onychodysostosis"
        },
        {
          "id": 539341,
          "code": "PGy3.12",
          "description": "Onycho-osteodysplasia"
        },
        {
          "id": 539342,
          "code": "PGyy300",
          "description": "Popliteal web syndrome"
        },
        {
          "id": 539343,
          "code": "PH12.11",
          "description": "Sjogren - Larsson syndrome"
        },
        {
          "id": 539344,
          "code": "PJ...00",
          "description": "Chromosomal anomalies"
        },
        {
          "id": 539345,
          "code": "PJ0..00",
          "description": "Down's syndrome - trisomy 21"
        },
        {
          "id": 539346,
          "code": "PJ0..11",
          "description": "Mongolism"
        },
        {
          "id": 539347,
          "code": "PJ0..12",
          "description": "Trisomy 21"
        },
        {
          "id": 539348,
          "code": "PJ0..13",
          "description": "Trisomy 22"
        },
        {
          "id": 539349,
          "code": "PJ00.00",
          "description": "Trisomy 21, meiotic nondisjunction"
        },
        {
          "id": 539350,
          "code": "PJ01.00",
          "description": "Trisomy 21, mosaicism"
        },
        {
          "id": 539351,
          "code": "PJ01.11",
          "description": "Trisomy 21, mitotic nondisjunction"
        },
        {
          "id": 539352,
          "code": "PJ02.00",
          "description": "Trisomy 21, translocation"
        },
        {
          "id": 539353,
          "code": "PJ02.11",
          "description": "Partial trisomy 21 in Down's syndrome"
        },
        {
          "id": 539354,
          "code": "PJ0z.00",
          "description": "Down's syndrome NOS"
        },
        {
          "id": 539355,
          "code": "PJ0z.11",
          "description": "Trisomy 21 NOS"
        },
        {
          "id": 539356,
          "code": "PJ1..00",
          "description": "Patau's syndrome - trisomy 13"
        },
        {
          "id": 539357,
          "code": "PJ10.00",
          "description": "Trisomy 13, meiotic nondisjunction"
        },
        {
          "id": 539358,
          "code": "PJ11.00",
          "description": "Trisomy 13, mosaicism"
        },
        {
          "id": 539359,
          "code": "PJ11.11",
          "description": "Trisomy 13, mitotic nondisjunction"
        },
        {
          "id": 539360,
          "code": "PJ12.00",
          "description": "Trisomy 13, translocation"
        },
        {
          "id": 539361,
          "code": "PJ12.11",
          "description": "Partial trisomy 13 in Patau's syndrome"
        },
        {
          "id": 539362,
          "code": "PJ1z.00",
          "description": "Patau's syndrome NOS"
        },
        {
          "id": 539363,
          "code": "PJ1z.11",
          "description": "Trisomy 13 NOS"
        },
        {
          "id": 539364,
          "code": "PJ2..00",
          "description": "Edward's syndrome - trisomy 18"
        },
        {
          "id": 539365,
          "code": "PJ20.00",
          "description": "Trisomy 18, meiotic nondisjunction"
        },
        {
          "id": 539366,
          "code": "PJ21.00",
          "description": "Trisomy 18, mosaicism"
        },
        {
          "id": 539367,
          "code": "PJ21.11",
          "description": "Trisomy 18, mitotic nondisjunction"
        },
        {
          "id": 539368,
          "code": "PJ22.00",
          "description": "Trisomy 18, translocation"
        },
        {
          "id": 539369,
          "code": "PJ22.11",
          "description": "Partial trisomy 18 in Edward's syndrome"
        },
        {
          "id": 539370,
          "code": "PJ2z.00",
          "description": "Edward's syndrome NOS"
        },
        {
          "id": 539371,
          "code": "PJ2z.11",
          "description": "TRISOMY 18 NOS"
        },
        {
          "id": 539372,
          "code": "PJ3..00",
          "description": "Monosomies and deletions from the autosomes"
        },
        {
          "id": 539373,
          "code": "PJ30.00",
          "description": "Antimongolism syndrome"
        },
        {
          "id": 539374,
          "code": "PJ30.11",
          "description": "Deletion of long arm of chromosome 21"
        },
        {
          "id": 539375,
          "code": "PJ31.00",
          "description": "Cri-du-chat syndrome"
        },
        {
          "id": 539376,
          "code": "PJ31.11",
          "description": "Deletion of short arm of chromosome 5"
        },
        {
          "id": 539377,
          "code": "PJ32.00",
          "description": "Deletion of short arm of chromosome 4"
        },
        {
          "id": 539378,
          "code": "PJ32.11",
          "description": "Wolff - Hirschorn syndrome"
        },
        {
          "id": 539379,
          "code": "PJ33.00",
          "description": "Other deletions of part of a chromosome"
        },
        {
          "id": 539380,
          "code": "PJ33000",
          "description": "Deletion of long arm of chromosome 13"
        },
        {
          "id": 539381,
          "code": "PJ33100",
          "description": "Deletion of long arm of chromosome 18"
        },
        {
          "id": 539382,
          "code": "PJ33111",
          "description": "18p- syndrome"
        },
        {
          "id": 539383,
          "code": "PJ33112",
          "description": "18q- syndrome"
        },
        {
          "id": 539384,
          "code": "PJ33113",
          "description": "18q deletion syndrome"
        },
        {
          "id": 539385,
          "code": "PJ33200",
          "description": "Deletion of short arm of chromosome 18"
        },
        {
          "id": 539386,
          "code": "PJ33211",
          "description": "18q- syndrome"
        },
        {
          "id": 539387,
          "code": "PJ33212",
          "description": "18p- syndrome"
        },
        {
          "id": 539388,
          "code": "PJ33300",
          "description": "Smith-Magenis syndrome"
        },
        {
          "id": 539389,
          "code": "PJ33400",
          "description": "Jacobsen syndrome"
        },
        {
          "id": 539390,
          "code": "PJ33500",
          "description": "Greig cephalopolysyndactyly syndrome"
        },
        {
          "id": 539391,
          "code": "PJ33600",
          "description": "Chromosome 22q11 deletion syndrome"
        },
        {
          "id": 539392,
          "code": "PJ33700",
          "description": "3p deletion syndrome"
        },
        {
          "id": 539393,
          "code": "PJ33800",
          "description": "Chromosome 4q deletion syndrome"
        },
        {
          "id": 539394,
          "code": "PJ33900",
          "description": "Langer-Giedion syndrome"
        },
        {
          "id": 539395,
          "code": "PJ33A00",
          "description": "Kleefstra syndrome"
        },
        {
          "id": 539396,
          "code": "PJ33z00",
          "description": "Other deletion of part of a chromosome NOS"
        },
        {
          "id": 539397,
          "code": "PJ34.00",
          "description": "Deletions seen only at prometaphase"
        },
        {
          "id": 539398,
          "code": "PJ35.00",
          "description": "Deletions with other complex rearrangements"
        },
        {
          "id": 539399,
          "code": "PJ36.00",
          "description": "Whole chromosome monosomy, meiotic nondisjunction"
        },
        {
          "id": 539400,
          "code": "PJ37.00",
          "description": "Whole chromosome monosomy, mosaicism"
        },
        {
          "id": 539401,
          "code": "PJ37.11",
          "description": "Whole chromosome monosomy, mitotic nondisjunction"
        },
        {
          "id": 539402,
          "code": "PJ37.12",
          "description": "Autosomal deletion - mosaicism"
        },
        {
          "id": 539403,
          "code": "PJ37000",
          "description": "Monosomy 21, mosaicism"
        },
        {
          "id": 539404,
          "code": "PJ37z00",
          "description": "Whole chromosome monosomy, mosaicism NOS"
        },
        {
          "id": 539405,
          "code": "PJ38.00",
          "description": "Chromosome replaced with ring or dicentric"
        },
        {
          "id": 539406,
          "code": "PJ38.11",
          "description": "Chromosome replaced with dicentric"
        },
        {
          "id": 539407,
          "code": "PJ38.12",
          "description": "Chromosome replaced with ring"
        },
        {
          "id": 539408,
          "code": "PJ3y.00",
          "description": "Other deletions from the autosomes"
        },
        {
          "id": 539409,
          "code": "PJ3z.00",
          "description": "Monosomies and deletions from the autosomes NOS"
        },
        {
          "id": 539410,
          "code": "PJ5..00",
          "description": "Other condition due to autosomal anomaly"
        },
        {
          "id": 539411,
          "code": "PJ50.00",
          "description": "Whole chromosome trisomy syndromes"
        },
        {
          "id": 539412,
          "code": "PJ50000",
          "description": "Trisomy 6"
        },
        {
          "id": 539413,
          "code": "PJ50100",
          "description": "Trisomy 7"
        },
        {
          "id": 539414,
          "code": "PJ50200",
          "description": "Trisomy 8"
        },
        {
          "id": 539415,
          "code": "PJ50300",
          "description": "Trisomy 9"
        },
        {
          "id": 539416,
          "code": "PJ50311",
          "description": "Trisomy 9 Mosaic Syndrome"
        },
        {
          "id": 539417,
          "code": "PJ50400",
          "description": "Trisomy 10"
        },
        {
          "id": 539418,
          "code": "PJ50500",
          "description": "Trisomy 11"
        },
        {
          "id": 539419,
          "code": "PJ50600",
          "description": "Trisomy 12"
        },
        {
          "id": 539420,
          "code": "PJ50700",
          "description": "Other trisomy C syndromes"
        },
        {
          "id": 539421,
          "code": "PJ50800",
          "description": "Trisomy 22"
        },
        {
          "id": 539422,
          "code": "PJ50w00",
          "description": "Whole chromosome trisomy, meitotic nondisjunction"
        },
        {
          "id": 539423,
          "code": "PJ50x00",
          "description": "Whole chromosome trisomy, mosaicism"
        },
        {
          "id": 539424,
          "code": "PJ50x11",
          "description": "Whole chromosome trisomy, mitotic nondisjunction"
        },
        {
          "id": 539425,
          "code": "PJ50y00",
          "description": "Other specified whole chromosome trisomy syndrome"
        },
        {
          "id": 539426,
          "code": "PJ50z00",
          "description": "Whole chromosome trisomy syndrome NOS"
        },
        {
          "id": 539427,
          "code": "PJ51.00",
          "description": "Partial trisomy syndromes"
        },
        {
          "id": 539428,
          "code": "PJ51000",
          "description": "Major partial trisomy"
        },
        {
          "id": 539429,
          "code": "PJ51100",
          "description": "Minor partial trisomy"
        },
        {
          "id": 539430,
          "code": "PJ51200",
          "description": "10q partial trisomy syndrome"
        },
        {
          "id": 539431,
          "code": "PJ51211",
          "description": "Duplication 10q syndrome"
        },
        {
          "id": 539432,
          "code": "PJ51300",
          "description": "Trisomy 4p syndrome"
        },
        {
          "id": 539433,
          "code": "PJ51311",
          "description": "4p duplication syndrome"
        },
        {
          "id": 539434,
          "code": "PJ51400",
          "description": "Trisomy 9p syndrome"
        },
        {
          "id": 539435,
          "code": "PJ51411",
          "description": "9p duplication syndrome"
        },
        {
          "id": 539436,
          "code": "PJ51500",
          "description": "15q partial trisomy syndrome"
        },
        {
          "id": 539437,
          "code": "PJ51511",
          "description": "Duplication 15q syndrome"
        },
        {
          "id": 539438,
          "code": "PJ51z00",
          "description": "Partial trisomy syndrome NOS"
        },
        {
          "id": 539439,
          "code": "PJ52.00",
          "description": "Trisomies of autosomes NEC"
        },
        {
          "id": 539440,
          "code": "PJ52000",
          "description": "Duplications seen only at prometaphase"
        },
        {
          "id": 539441,
          "code": "PJ52100",
          "description": "Duplications with other complex rearrangements"
        },
        {
          "id": 539442,
          "code": "PJ52200",
          "description": "Extra marker chromosomes"
        },
        {
          "id": 539443,
          "code": "PJ52300",
          "description": "Triploidy"
        },
        {
          "id": 539444,
          "code": "PJ52400",
          "description": "Polyploidy"
        },
        {
          "id": 539445,
          "code": "PJ52z00",
          "description": "Trisomy of autosomes NEC NOS"
        },
        {
          "id": 539579,
          "code": "PKyB.00",
          "description": "CHARGE association"
        },
        {
          "id": 539446,
          "code": "PJ53100",
          "description": "Balanced autosomal rearrangement in abnormal individual"
        },
        {
          "id": 539447,
          "code": "PJ5y.00",
          "description": "Other specified conditions due to autosomal anomalies"
        },
        {
          "id": 539448,
          "code": "PJ5y.11",
          "description": "Pseudotrisomy 18"
        },
        {
          "id": 539449,
          "code": "PJ5z.00",
          "description": "Unspecified conditions due to autosomal anomalies"
        },
        {
          "id": 539450,
          "code": "PJ5z.11",
          "description": "Aneuploidy NEC"
        },
        {
          "id": 539451,
          "code": "PJ6..00",
          "description": "Gonadal dysgenesis"
        },
        {
          "id": 539452,
          "code": "PJ60.00",
          "description": "Mixed gonadal dysgenesis"
        },
        {
          "id": 539453,
          "code": "PJ62.00",
          "description": "Ovarian dysgenesis"
        },
        {
          "id": 539454,
          "code": "PJ63.00",
          "description": "Turner's syndrome"
        },
        {
          "id": 539455,
          "code": "PJ63000",
          "description": "Turner's phenotype, karyotype normal"
        },
        {
          "id": 539456,
          "code": "PJ63100",
          "description": "Turner's phenotype, karyotype 45X"
        },
        {
          "id": 539457,
          "code": "PJ63200",
          "description": "Turner's phenotype, karyotype 46X iso (Xq)"
        },
        {
          "id": 539458,
          "code": "PJ63300",
          "description": "Turner's phenotype, karyotype 46X with abnormal sex chromosome, except iso (Xq)"
        },
        {
          "id": 539459,
          "code": "PJ63400",
          "description": "Turner's phenotype, mosaicism 45X/46XX or 45X/46XY"
        },
        {
          "id": 539460,
          "code": "PJ63500",
          "description": "Turner's phenotype, mosaicism, 45X/other cell line with abnormal sex chromosome"
        },
        {
          "id": 539461,
          "code": "PJ63600",
          "description": "Turner's phenotype, other variant karyotypes"
        },
        {
          "id": 539462,
          "code": "PJ63611",
          "description": "Turner's phenotype, ring chromosome karyotype"
        },
        {
          "id": 539463,
          "code": "PJ63612",
          "description": "Turner's phenotype, partial X deletion karyotype"
        },
        {
          "id": 539464,
          "code": "PJ63z00",
          "description": "Turner's syndrome NOS"
        },
        {
          "id": 539465,
          "code": "PJ63z11",
          "description": "Bonnevie-Ullrich syndrome NOS"
        },
        {
          "id": 539466,
          "code": "PJ63z12",
          "description": "Ovarian dwarfism NEC"
        },
        {
          "id": 539467,
          "code": "PJ64.00",
          "description": "Other gonadal dysgenesis phenotype"
        },
        {
          "id": 539468,
          "code": "PJ64000",
          "description": "XY, female phenotype"
        },
        {
          "id": 539469,
          "code": "PJ64z00",
          "description": "Other gonadal dysgenesis phenotype NOS"
        },
        {
          "id": 539470,
          "code": "PJ6z.00",
          "description": "Gonadal dysgenesis NOS"
        },
        {
          "id": 539471,
          "code": "PJy..00",
          "description": "Other sex chromosome anomaly"
        },
        {
          "id": 539472,
          "code": "PJy1.00",
          "description": "Sex chromosome mosaicism"
        },
        {
          "id": 539473,
          "code": "PJy1000",
          "description": "Mosaic XO/XY"
        },
        {
          "id": 539474,
          "code": "PJy1200",
          "description": "Mosaic XY/XXY"
        },
        {
          "id": 539475,
          "code": "PJy1300",
          "description": "Mosaic including XXXXY"
        },
        {
          "id": 539476,
          "code": "PJy1z00",
          "description": "Sex chromosome mosaicism NOS"
        },
        {
          "id": 539477,
          "code": "PJy2.00",
          "description": "XXX syndrome"
        },
        {
          "id": 539478,
          "code": "PJy2.11",
          "description": "Triple X female"
        },
        {
          "id": 539479,
          "code": "PJy2.12",
          "description": "Karyotype 47, XXX"
        },
        {
          "id": 539480,
          "code": "PJy4.00",
          "description": "Female with more than three X chromosomes"
        },
        {
          "id": 539481,
          "code": "PJy5.00",
          "description": "Mosaicism, lines with various numbers of X chromosomes"
        },
        {
          "id": 539482,
          "code": "PJyy.00",
          "description": "Other specified sex chromosome anomaly"
        },
        {
          "id": 539483,
          "code": "PJyy.11",
          "description": "Absence of sex chromosome"
        },
        {
          "id": 539484,
          "code": "PJyy000",
          "description": "Chimera 46XX/46XY"
        },
        {
          "id": 539485,
          "code": "PJyy011",
          "description": "Chimera 46XX/46XY, true hermaphrodite"
        },
        {
          "id": 539486,
          "code": "PJyy100",
          "description": "46XX true hermaphrodite"
        },
        {
          "id": 539487,
          "code": "PJyy200",
          "description": "Fragile X chromosome"
        },
        {
          "id": 539488,
          "code": "PJyy400",
          "description": "Fragile X syndrome"
        },
        {
          "id": 539489,
          "code": "PJyyz00",
          "description": "Other sex chromosome abnormality NOS"
        },
        {
          "id": 539490,
          "code": "PJyz.00",
          "description": "Sex chromosome anomaly NOS"
        },
        {
          "id": 539491,
          "code": "PJz..00",
          "description": "Chromosomal anomalies NOS"
        },
        {
          "id": 539492,
          "code": "PJz0.00",
          "description": "Mosaicism NOS"
        },
        {
          "id": 539493,
          "code": "PJz1.00",
          "description": "Additional chromosome NOS"
        },
        {
          "id": 539494,
          "code": "PJz2.00",
          "description": "Deletion of chromosome NOS"
        },
        {
          "id": 539495,
          "code": "PJz3.00",
          "description": "Duplication of chromosome"
        },
        {
          "id": 539496,
          "code": "PJz3100",
          "description": "MeCP2 duplication syndrome"
        },
        {
          "id": 539497,
          "code": "PJzz.00",
          "description": "Conditions due to anomaly of unspecified chromosome NOS"
        },
        {
          "id": 539498,
          "code": "PK64.00",
          "description": "Proteus syndrome"
        },
        {
          "id": 539499,
          "code": "PKy0.11",
          "description": "Prader-Willi Syndrome"
        },
        {
          "id": 539500,
          "code": "PKy0.12",
          "description": "Prader-Willi syndrome"
        },
        {
          "id": 539501,
          "code": "PKy0.13",
          "description": "Noonan's syndrome"
        },
        {
          "id": 539502,
          "code": "PKy0000",
          "description": "Bannayan-Riley-Ruvalcaba syndrome"
        },
        {
          "id": 539503,
          "code": "PKy0100",
          "description": "Currarino triad"
        },
        {
          "id": 539504,
          "code": "PKy0200",
          "description": "Adams-Oliver syndrome"
        },
        {
          "id": 539505,
          "code": "PKy0300",
          "description": "Weaver syndrome"
        },
        {
          "id": 539506,
          "code": "PKy0400",
          "description": "Marshall-Smith syndrome"
        },
        {
          "id": 539507,
          "code": "PKy0600",
          "description": "Feingold syndrome"
        },
        {
          "id": 539508,
          "code": "PKy1.00",
          "description": "Laurence-Moon-Biedl syndrome"
        },
        {
          "id": 539509,
          "code": "PKy1.11",
          "description": "Biedl-Bardet syndrome"
        },
        {
          "id": 539510,
          "code": "PKy2.00",
          "description": "Marfan's syndrome"
        },
        {
          "id": 539511,
          "code": "PKy4.00",
          "description": "William syndrome"
        },
        {
          "id": 539580,
          "code": "PKyB.11",
          "description": "CHARGE syndrome"
        },
        {
          "id": 539512,
          "code": "PKy5.00",
          "description": "Congenital malformation syndromes affecting facial appearance"
        },
        {
          "id": 539513,
          "code": "PKy5000",
          "description": "Oral - facial - digital syndrome"
        },
        {
          "id": 539514,
          "code": "PKy5011",
          "description": "Papillon-Leage-Psaume syndrome"
        },
        {
          "id": 539515,
          "code": "PKy5100",
          "description": "Mohr's syndrome"
        },
        {
          "id": 539516,
          "code": "PKy5200",
          "description": "Cyclops"
        },
        {
          "id": 539517,
          "code": "PKy5300",
          "description": "Whistling face syndrome"
        },
        {
          "id": 539518,
          "code": "PKy5311",
          "description": "Freeman Sheldon syndrome"
        },
        {
          "id": 539519,
          "code": "PKy5500",
          "description": "Gorlin-Chaudhry-Moss syndrome"
        },
        {
          "id": 539520,
          "code": "PKy5600",
          "description": "Marchesani syndrome"
        },
        {
          "id": 539521,
          "code": "PKy5611",
          "description": "Weill-Marchesani syndrome"
        },
        {
          "id": 539522,
          "code": "PKy5612",
          "description": "Spherophakia-brachymorphia syndrome"
        },
        {
          "id": 539523,
          "code": "PKy5700",
          "description": "Otopalatodigital syndrome"
        },
        {
          "id": 539524,
          "code": "PKy5900",
          "description": "Oculo-palato-digital syndrome"
        },
        {
          "id": 539525,
          "code": "PKy5A00",
          "description": "Trichorhinophalangeal syndrome"
        },
        {
          "id": 539526,
          "code": "PKy5B00",
          "description": "Costello syndrome"
        },
        {
          "id": 539527,
          "code": "PKy5D00",
          "description": "Kabuki make-up syndrome"
        },
        {
          "id": 539528,
          "code": "PKy5E00",
          "description": "Branchio-otorenal dysplasia"
        },
        {
          "id": 539529,
          "code": "PKy5F00",
          "description": "Coffin-Lowry syndrome"
        },
        {
          "id": 539530,
          "code": "PKy5G00",
          "description": "Carey Fineman Ziter syndrome"
        },
        {
          "id": 539531,
          "code": "PKy5H00",
          "description": "Simpson-Golabi-Behmel syndrome"
        },
        {
          "id": 539532,
          "code": "PKy5K00",
          "description": "Cohen syndrome"
        },
        {
          "id": 539533,
          "code": "PKy5L00",
          "description": "Cardio-facio-cutaneous syndrome"
        },
        {
          "id": 539534,
          "code": "PKy5M00",
          "description": "Oculofaciocardiodental syndrome"
        },
        {
          "id": 539535,
          "code": "PKy5z00",
          "description": "Congenital malformation syndrome affecting facial appearance NOS"
        },
        {
          "id": 539536,
          "code": "PKy6.00",
          "description": "Congenital malformation syndromes associated with short stature"
        },
        {
          "id": 539537,
          "code": "PKy6000",
          "description": "Amsterdam dwarf"
        },
        {
          "id": 539538,
          "code": "PKy6011",
          "description": "Cornelia de Lange syndrome"
        },
        {
          "id": 539539,
          "code": "PKy6012",
          "description": "Bruck-de Lange syndrome"
        },
        {
          "id": 539540,
          "code": "PKy6013",
          "description": "Degenerative amsterodamensis typus"
        },
        {
          "id": 539541,
          "code": "PKy6100",
          "description": "Cockayne syndrome"
        },
        {
          "id": 539542,
          "code": "PKy6200",
          "description": "Russell - Silver syndrome"
        },
        {
          "id": 539543,
          "code": "PKy6300",
          "description": "Smith - Lemli - Opitz syndrome"
        },
        {
          "id": 539544,
          "code": "PKy6400",
          "description": "Seckel syndrome"
        },
        {
          "id": 539545,
          "code": "PKy6500",
          "description": "Aarskog syndrome"
        },
        {
          "id": 539546,
          "code": "PKy6600",
          "description": "Dubowitz syndrome"
        },
        {
          "id": 539547,
          "code": "PKy6700",
          "description": "Robinow syndrome"
        },
        {
          "id": 539548,
          "code": "PKy6800",
          "description": "Floating-Harbor syndrome"
        },
        {
          "id": 539549,
          "code": "PKy6900",
          "description": "Borjeson-Forssman-Lehmann syndrome"
        },
        {
          "id": 539550,
          "code": "PKy6z00",
          "description": "Congenital malformation syndrome associated with short stature NOS"
        },
        {
          "id": 539551,
          "code": "PKy7.00",
          "description": "Congenital malformation syndromes involving limbs"
        },
        {
          "id": 539552,
          "code": "PKy7000",
          "description": "Carpenter's syndrome"
        },
        {
          "id": 539553,
          "code": "PKy7100",
          "description": "Holt - Oram syndrome"
        },
        {
          "id": 539554,
          "code": "PKy7200",
          "description": "Klippel - Trenaunay - Weber syndrome"
        },
        {
          "id": 539555,
          "code": "PKy7300",
          "description": "Rubenstein - Tayi syndrome"
        },
        {
          "id": 539556,
          "code": "PKy7311",
          "description": "Rubinstein-Taybi syndrome"
        },
        {
          "id": 539557,
          "code": "PKy7400",
          "description": "Sirenomelia"
        },
        {
          "id": 539558,
          "code": "PKy7411",
          "description": "Sympus"
        },
        {
          "id": 539559,
          "code": "PKy7412",
          "description": "Mermaid sirenomelia"
        },
        {
          "id": 539560,
          "code": "PKy7600",
          "description": "Aglossia - adactyly syndrome"
        },
        {
          "id": 539561,
          "code": "PKy7611",
          "description": "Hanhart syndrome"
        },
        {
          "id": 539562,
          "code": "PKy7700",
          "description": "Caudal dysplasia sequence"
        },
        {
          "id": 539563,
          "code": "PKy7900",
          "description": "Popliteal pterygium syndrome"
        },
        {
          "id": 539564,
          "code": "PKy7A00",
          "description": "Congenital contractural arachnodactyly"
        },
        {
          "id": 539565,
          "code": "PKy7A11",
          "description": "Beals syndrome"
        },
        {
          "id": 539566,
          "code": "PKy7B00",
          "description": "Stickler syndrome"
        },
        {
          "id": 539567,
          "code": "PKy7z00",
          "description": "Congenital malformation syndrome involving limbs NOS"
        },
        {
          "id": 539568,
          "code": "PKy8000",
          "description": "Noonan's syndrome"
        },
        {
          "id": 539569,
          "code": "PKy8z00",
          "description": "Congenital malformation syndrome with other skeletal changes NOS"
        },
        {
          "id": 539570,
          "code": "PKy9.00",
          "description": "Congenital malformation syndromes with metabolic disturbances"
        },
        {
          "id": 539571,
          "code": "PKy9000",
          "description": "Alport's syndrome"
        },
        {
          "id": 539572,
          "code": "PKy9100",
          "description": "Beckwith's syndrome"
        },
        {
          "id": 539573,
          "code": "PKy9111",
          "description": "Wiedemann - Beckwith syndrome"
        },
        {
          "id": 539574,
          "code": "PKy9300",
          "description": "Prader - Willi syndrome"
        },
        {
          "id": 539575,
          "code": "PKy9400",
          "description": "Zellweger's syndrome"
        },
        {
          "id": 539576,
          "code": "PKy9500",
          "description": "Biemond's syndrome"
        },
        {
          "id": 539577,
          "code": "PKy9600",
          "description": "VATER association"
        },
        {
          "id": 539578,
          "code": "PKy9z00",
          "description": "Congenital malformation syndrome with metabolic disturbance NOS"
        },
        {
          "id": 539581,
          "code": "PKyB.12",
          "description": "Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association"
        },
        {
          "id": 539582,
          "code": "PKyC.00",
          "description": "Pena-Shokeir syndrome type I"
        },
        {
          "id": 539583,
          "code": "PKyD.00",
          "description": "Nicolaides-Baraitser syndrome"
        },
        {
          "id": 539584,
          "code": "PKyF.00",
          "description": "Alstrom syndrome"
        },
        {
          "id": 539585,
          "code": "PKyG.00",
          "description": "Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth"
        },
        {
          "id": 539586,
          "code": "PKyG.11",
          "description": "Ohdo blepharophimosis syndrome"
        },
        {
          "id": 539587,
          "code": "PKyH.00",
          "description": "Moulded baby syndrome"
        },
        {
          "id": 539588,
          "code": "PKyJ.00",
          "description": "Lujan-Fryns syndrome"
        },
        {
          "id": 539589,
          "code": "PKyK.00",
          "description": "Loeys-Dietz syndrome"
        },
        {
          "id": 539590,
          "code": "PKyL.00",
          "description": "FG syndrome"
        },
        {
          "id": 539591,
          "code": "PKyL.11",
          "description": "Opitz-Kaveggia syndrome"
        },
        {
          "id": 539592,
          "code": "PKyM.00",
          "description": "Johanson-Blizzard syndrome"
        },
        {
          "id": 539593,
          "code": "PKyN.00",
          "description": "Marden-Walker syndrome"
        },
        {
          "id": 539594,
          "code": "PKyz.11",
          "description": "Cockayne's syndrome"
        },
        {
          "id": 539595,
          "code": "PKyz000",
          "description": "Ullrich - Feichtiger syndrome, chimaera"
        },
        {
          "id": 539596,
          "code": "PKyz500",
          "description": "Happy puppet syndrome"
        },
        {
          "id": 539597,
          "code": "PKyz511",
          "description": "Angelman syndrome"
        },
        {
          "id": 539598,
          "code": "PKyz600",
          "description": "Congenital hemihypertrophy"
        },
        {
          "id": 539599,
          "code": "PKyz700",
          "description": "Angelman's syndrome"
        },
        {
          "id": 539600,
          "code": "PKyz711",
          "description": "Angelman syndrome"
        },
        {
          "id": 539601,
          "code": "Pyu9900",
          "description": "[X]Other congenital malformation syndromes with other skeletal changes"
        },
        {
          "id": 539602,
          "code": "PyuA.00",
          "description": "[X]Chromosomal abnormalities, not elswhere classified"
        },
        {
          "id": 539603,
          "code": "PyuA000",
          "description": "[X]Other specified trisomies and partial trisomies of autosomes"
        },
        {
          "id": 539604,
          "code": "PyuA100",
          "description": "[X]Other deletions of part of a chromosome"
        },
        {
          "id": 539605,
          "code": "PyuA200",
          "description": "[X]Other deletions from the autosomes"
        },
        {
          "id": 539606,
          "code": "PyuA500",
          "description": "[X]Other variants of Turner's syndrome"
        },
        {
          "id": 539607,
          "code": "PyuA600",
          "description": "[X]Other specified sex chromosome abnormalities, female phenotype"
        },
        {
          "id": 539608,
          "code": "PyuA900",
          "description": "[X]Other specified chromosome abnormalities"
        },
        {
          "id": 539609,
          "code": "PyuAB00",
          "description": "[X]Pallister-Killian syndrome"
        },
        {
          "id": 539610,
          "code": "PyuAC00",
          "description": "[X]Townes-Brocks syndrome"
        },
        {
          "id": 539611,
          "code": "PyuAD00",
          "description": "[X]Li-Fraumeni syndrome"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 11531,
      "version_name": "Other congenital malformations and chromosomal abnormalities (Read v2)",
      "version_date": "2025-01-19T16:54:26.838819Z",
      "is_published": true,
      "is_latest": true
    }
  ]
}