{
  "concept_id": 4643,
  "concept_version_id": 12182,
  "coding_system": {
    "id": 5,
    "name": "Read codes v2",
    "description": "Read codes v2"
  },
  "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": 4531,
  "requested_entity_id": null,
  "components": [
    {
      "id": 10860,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "application/vnd.openxmlformats-officedocument.spreadsheetml.sheet",
      "codes": [
        {
          "id": 654236,
          "code": "^ESCT1164424",
          "description": "Pyridoxine-dependent epilepsy"
        },
        {
          "id": 654237,
          "code": "^ESCT1201690",
          "description": "Mosaic trisomy 12"
        },
        {
          "id": 654238,
          "code": "^ESCT1202745",
          "description": "SCN8A-related epilepsy with encephalopathy"
        },
        {
          "id": 654239,
          "code": "^ESCT1202746",
          "description": "SCN8A encephalopathy"
        },
        {
          "id": 654240,
          "code": "^ESCT1207699",
          "description": "STXBP1 encephalopathy with epilepsy"
        },
        {
          "id": 654241,
          "code": "^ESCT1349154",
          "description": "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
        },
        {
          "id": 654242,
          "code": "^ESCT1349379",
          "description": "Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy-like syndrome"
        },
        {
          "id": 654243,
          "code": "^ESCT1349497",
          "description": "Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome"
        },
        {
          "id": 654244,
          "code": "^ESCT1350026",
          "description": "Infantile epileptic dyskinetic encephalopathy"
        },
        {
          "id": 654245,
          "code": "^ESCT1350116",
          "description": "Severe neonatal onset encephalopathy with microcephaly"
        },
        {
          "id": 654246,
          "code": "^ESCT1350306",
          "description": "Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome"
        },
        {
          "id": 654247,
          "code": "^ESCT1357219",
          "description": "KCNQ2-related epileptic encephalopathy"
        },
        {
          "id": 654248,
          "code": "^ESCT1357293",
          "description": "Myoclonic epilepsy in non-progressive encephalopathy"
        },
        {
          "id": 654249,
          "code": "^ESCT1362207",
          "description": "Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome"
        },
        {
          "id": 654250,
          "code": "^ESCT1362256",
          "description": "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
        },
        {
          "id": 654251,
          "code": "^ESCT1362257",
          "description": "Congenital disorder of glycosylation type 1u"
        },
        {
          "id": 654252,
          "code": "^ESCT1363352",
          "description": "RVCL - retinal vasculopathy cerebral leukoencephalopathy"
        },
        {
          "id": 654253,
          "code": "^ESCT1364672",
          "description": "Multiple congenital anomalies, hypotonia, seizures syndrome"
        },
        {
          "id": 654254,
          "code": "^ESCT1379158",
          "description": "Myoclonic epilepsy with ragged red fibres"
        },
        {
          "id": 654255,
          "code": "^ESCT1391198",
          "description": "Primary hyperaldosteronism, seizures, neurological abnormalities syndrome"
        },
        {
          "id": 654256,
          "code": "^ESCT1394420",
          "description": "Down syndrome co-occurrent with leukaemoid reaction associated transient neonatal pustulosis"
        },
        {
          "id": 654257,
          "code": "^ESCT1446440",
          "description": "Neonatal glycine encephalopathy"
        },
        {
          "id": 654258,
          "code": "^ESCT1446468",
          "description": "Infantile glycine encephalopathy"
        },
        {
          "id": 654259,
          "code": "^ESCT1453350",
          "description": "Angelman syndrome due to maternal monosomy 15q11q13"
        },
        {
          "id": 654260,
          "code": "^ESCT1457629",
          "description": "Aicardi Goutieres syndrome type 1"
        },
        {
          "id": 654261,
          "code": "^ESCT1472609",
          "description": "Phenylketonuria"
        },
        {
          "id": 654262,
          "code": "^ESCT1476958",
          "description": "SYNGAP1-related developmental and epileptic encephalopathy"
        },
        {
          "id": 654263,
          "code": "^ESCT1479003",
          "description": "CNTNAP2-related developmental and epileptic encephalopathy"
        },
        {
          "id": 654264,
          "code": "^ESCT1480128",
          "description": "Encephalopathy due to mitochondrial and peroxisomal fission defect"
        },
        {
          "id": 654265,
          "code": "^ESCTAD356305",
          "description": "Adrenoleukodystrophy"
        },
        {
          "id": 654266,
          "code": "^ESCTAI381187",
          "description": "Aicardi's syndrome"
        },
        {
          "id": 654267,
          "code": "^ESCTAI506448",
          "description": "AIP - Acute intermittent porphyria"
        },
        {
          "id": 654268,
          "code": "^ESCTAL356311",
          "description": "ALD - adrenoleukodystrophy"
        },
        {
          "id": 654269,
          "code": "^ESCTAN375005",
          "description": "Angelman syndrome"
        },
        {
          "id": 654270,
          "code": "^ESCTAS533961",
          "description": "Ash leaf spot, Tuberous sclerosis"
        },
        {
          "id": 654271,
          "code": "^ESCTBI264051",
          "description": "Biotinidase deficiency"
        },
        {
          "id": 654272,
          "code": "^ESCTCH752019",
          "description": "Chromosome 1p36 deletion syndrome"
        },
        {
          "id": 654273,
          "code": "^ESCTCL262045",
          "description": "Classical phenylketonuria"
        },
        {
          "id": 654274,
          "code": "^ESCTCO764972",
          "description": "Congenital disorder of glycosylation type 1c"
        },
        {
          "id": 654275,
          "code": "^ESCTDE436170",
          "description": "Deficiency of guanidinoacetate methyltransferase"
        },
        {
          "id": 654276,
          "code": "^ESCTDE781180",
          "description": "Developmental delay, epilepsy, neonatal diabetes syndrome"
        },
        {
          "id": 654277,
          "code": "^ESCTDE795516",
          "description": "Dementia with Down syndrome"
        },
        {
          "id": 654278,
          "code": "^ESCTDO316104",
          "description": "Down syndrome"
        },
        {
          "id": 654279,
          "code": "^ESCTDO316106",
          "description": "Downs syndrome"
        },
        {
          "id": 654280,
          "code": "^ESCTEA321568",
          "description": "Early myoclonic encephalopathy"
        },
        {
          "id": 654281,
          "code": "^ESCTEP784067",
          "description": "Epileptic encephalopathy"
        },
        {
          "id": 654282,
          "code": "^ESCTEP795276",
          "description": "Epilepsy telangiectasia syndrome"
        },
        {
          "id": 654283,
          "code": "^ESCTFE803910",
          "description": "Fetal trisomy 21, Down syndrome"
        },
        {
          "id": 654284,
          "code": "^ESCTFI308046",
          "description": "Fibrous skin tumour of Tuberous sclerosis"
        },
        {
          "id": 654285,
          "code": "^ESCTFR250831",
          "description": "FRAXA - Fragile X syndrome"
        },
        {
          "id": 654286,
          "code": "^ESCTFX734916",
          "description": "FXTAS - Fragile X associated tremor ataxia syndrome"
        },
        {
          "id": 654287,
          "code": "^ESCTGL296623",
          "description": "Glutaric aciduria"
        },
        {
          "id": 654288,
          "code": "^ESCTGL373907",
          "description": "Glutaric aciduria, type 1"
        },
        {
          "id": 654289,
          "code": "^ESCTGL373910",
          "description": "Glutaric aciduria type I"
        },
        {
          "id": 654290,
          "code": "^ESCTHE261801",
          "description": "Hereditary coproporphyria"
        },
        {
          "id": 654291,
          "code": "^ESCTHO621250",
          "description": "Holocarboxylase synthase deficiency"
        },
        {
          "id": 654292,
          "code": "^ESCTIN389973",
          "description": "Inborn error of metabolism"
        },
        {
          "id": 654293,
          "code": "^ESCTIN506451",
          "description": "Intermittent acute porphyria"
        },
        {
          "id": 654294,
          "code": "^ESCTIS392739",
          "description": "Isovaleric acidemia"
        },
        {
          "id": 654295,
          "code": "^ESCTJU314251",
          "description": "Juvenile myopathy, encephalopathy, lactic acidosis AND stroke"
        },
        {
          "id": 654296,
          "code": "^ESCTKL285117",
          "description": "Klinefelter syndrome"
        },
        {
          "id": 654297,
          "code": "^ESCTKL483140",
          "description": "Klinefelter's syndrome - male with 46 XX karyotype"
        },
        {
          "id": 654298,
          "code": "^ESCTKL557137",
          "description": "Klinefelter's syndrome XXXY"
        },
        {
          "id": 654299,
          "code": "^ESCTKL557139",
          "description": "Klinefelter's syndrome XXXXY"
        },
        {
          "id": 654300,
          "code": "^ESCTKL671829",
          "description": "Klinefelter's syndrome, XXY"
        },
        {
          "id": 654301,
          "code": "^ESCTKL671831",
          "description": "Klinefelter's syndrome karyotype 47 XXY"
        },
        {
          "id": 654302,
          "code": "^ESCTKU350778",
          "description": "Kufs type neuronal ceroid lipofuscinosis"
        },
        {
          "id": 654303,
          "code": "^ESCTL2511494",
          "description": "L-2(OH) glutaric aciduria"
        },
        {
          "id": 654304,
          "code": "^ESCTLE476866",
          "description": "Leukodystrophy"
        },
        {
          "id": 654305,
          "code": "^ESCTLY541393",
          "description": "Lysosomal storage disease marker"
        },
        {
          "id": 654306,
          "code": "^ESCTME314252",
          "description": "MELAS"
        },
        {
          "id": 654307,
          "code": "^ESCTME656803",
          "description": "Metachromatic leukodystrophy"
        },
        {
          "id": 654308,
          "code": "^ESCTNE382810",
          "description": "Neurofibromatosis"
        },
        {
          "id": 654309,
          "code": "^ESCTNE757704",
          "description": "Neuronal ceroid lipofuscinosis 8"
        },
        {
          "id": 654310,
          "code": "^ESCTOR381591",
          "description": "Ornithine transcarbamylase deficiency"
        },
        {
          "id": 654311,
          "code": "^ESCTOS782746",
          "description": "Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome"
        },
        {
          "id": 654312,
          "code": "^ESCTOT381594",
          "description": "OTC - Ornithine transcarbamylase deficiency"
        },
        {
          "id": 654313,
          "code": "^ESCTPD325403",
          "description": "PDH - Pyruvate dehydrogenase deficiency"
        },
        {
          "id": 654314,
          "code": "^ESCTPR726536",
          "description": "Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome"
        },
        {
          "id": 654315,
          "code": "^ESCTPY325397",
          "description": "Pyruvate dehydrogenase complex deficiency"
        },
        {
          "id": 654316,
          "code": "^ESCTRE361653",
          "description": "Rett's disorder"
        },
        {
          "id": 654317,
          "code": "^ESCTRE361659",
          "description": "Retts syndrome"
        },
        {
          "id": 654318,
          "code": "^ESCTSI312433",
          "description": "Sialidosis"
        },
        {
          "id": 654319,
          "code": "^ESCTSM320735",
          "description": "Smith-Lemli-Opitz syndrome"
        },
        {
          "id": 654320,
          "code": "^ESCTSR795947",
          "description": "SRD5A3-CDG - steroid 5 alpha-reductase 3 congenital disorder of glycosylation"
        },
        {
          "id": 654321,
          "code": "^ESCTST281552",
          "description": "Sturge-Weber disease"
        },
        {
          "id": 654322,
          "code": "^ESCTTR506771",
          "description": "Triple X syndrome, epilepsy, and hypogammaglobulinaemia"
        },
        {
          "id": 654323,
          "code": "^ESCTTR634837",
          "description": "Translocation Down syndrome"
        },
        {
          "id": 654324,
          "code": "^ESCTTS261464",
          "description": "TS - Tuberous sclerosis"
        },
        {
          "id": 654325,
          "code": "^ESCTTU261459",
          "description": "Tuberous sclerosis syndrome"
        },
        {
          "id": 654326,
          "code": "^ESCTVA344690",
          "description": "Variegate porphyria"
        },
        {
          "id": 654327,
          "code": "^ESCTWH786116",
          "description": "White matter disorder co-occurrent and due to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"
        },
        {
          "id": 654328,
          "code": "^ESCTWO776952",
          "description": "Wolf Hirschhorn syndrome"
        },
        {
          "id": 654329,
          "code": "^ESCTXL775809",
          "description": "X-linked epilepsy with learning disability and behaviour disorder syndrome"
        },
        {
          "id": 654330,
          "code": "^ESCTZE393781",
          "description": "Zellweger syndrome"
        },
        {
          "id": 654331,
          "code": "B927.",
          "description": "Neurofibromatosis - Von Recklinghausen's disease"
        },
        {
          "id": 654332,
          "code": "B927.11",
          "description": "Von Recklinghausen's disease"
        },
        {
          "id": 654333,
          "code": "B927.12",
          "description": "Neurofibromatosis type 1"
        },
        {
          "id": 654334,
          "code": "B927-1",
          "description": "Von Recklinghausen's disease"
        },
        {
          "id": 654335,
          "code": "B927-99",
          "description": "Neurofibromatosis"
        },
        {
          "id": 654336,
          "code": "B929.",
          "description": "Neurofibromatosis type 2"
        },
        {
          "id": 654337,
          "code": "C301",
          "description": "Phenylketonuria"
        },
        {
          "id": 654338,
          "code": "C301.",
          "description": "Phenylketonuria"
        },
        {
          "id": 654339,
          "code": "C3033",
          "description": "Maple syrup urine disease"
        },
        {
          "id": 654340,
          "code": "C303300",
          "description": "Maple syrup urine disease"
        },
        {
          "id": 654341,
          "code": "C3043",
          "description": "Homocystinuria"
        },
        {
          "id": 654342,
          "code": "C304300",
          "description": "Homocystinuria"
        },
        {
          "id": 654343,
          "code": "C3080",
          "description": "Medium chain acyl-CoA dehydrogenase deficiency"
        },
        {
          "id": 654344,
          "code": "C308000",
          "description": "Medium chain acyl-CoA dehydrogenase deficiency"
        },
        {
          "id": 654345,
          "code": "C3082",
          "description": "X-linked adrenoleucodystrophy"
        },
        {
          "id": 654346,
          "code": "C308200",
          "description": "X-linked adrenoleucodystrophy"
        },
        {
          "id": 654347,
          "code": "C30y8",
          "description": "Glutaric aciduria Type 1"
        },
        {
          "id": 654348,
          "code": "C30y800",
          "description": "Glutaric aciduria Type 1"
        },
        {
          "id": 654349,
          "code": "C3150",
          "description": "Pyruvate dehydrogenase deficiency"
        },
        {
          "id": 654350,
          "code": "C315000",
          "description": "Pyruvate dehydrogenase deficiency"
        },
        {
          "id": 654351,
          "code": "C3151",
          "description": "MELAS - Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes"
        },
        {
          "id": 654352,
          "code": "C3710",
          "description": "Congenital porphyria"
        },
        {
          "id": 654353,
          "code": "C371000",
          "description": "Congenital porphyria"
        },
        {
          "id": 654354,
          "code": "C3712",
          "description": "Acute intermittent porphyria"
        },
        {
          "id": 654355,
          "code": "C371200",
          "description": "Acute intermittent porphyria"
        },
        {
          "id": 654356,
          "code": "C3715",
          "description": "Coproporphyria"
        },
        {
          "id": 654357,
          "code": "C371500",
          "description": "Coproporphyria"
        },
        {
          "id": 654358,
          "code": "C37yA",
          "description": "Trimethylaminuria"
        },
        {
          "id": 654359,
          "code": "C37yA00",
          "description": "Trimethylaminuria"
        },
        {
          "id": 654360,
          "code": "Cyu80",
          "description": "Hyperphenylalaninaemia"
        },
        {
          "id": 654361,
          "code": "Cyu8000",
          "description": "[X]Other hyperphenylalaninaemias"
        },
        {
          "id": 654362,
          "code": "Cyu8A",
          "description": "[X]Other mucopolysaccharidoses"
        },
        {
          "id": 654363,
          "code": "EMISNQAD62",
          "description": "Adrenoleucodystrophy"
        },
        {
          "id": 654364,
          "code": "EMISNQCA43",
          "description": "Cause of learning disabilities: Tuberous sclerosis"
        },
        {
          "id": 654365,
          "code": "EMISNQCA51",
          "description": "Cause of learning disabilities: Phenylketonuria"
        },
        {
          "id": 654366,
          "code": "EMISNQFR2",
          "description": "Fragile X syndrome"
        },
        {
          "id": 654367,
          "code": "EMISNQGL2",
          "description": "GLUT1 deficiency syndrome"
        },
        {
          "id": 654368,
          "code": "EMISNQMI193",
          "description": "MELAS"
        },
        {
          "id": 654369,
          "code": "Eu842",
          "description": "Rett syndrome"
        },
        {
          "id": 654370,
          "code": "Eu84200",
          "description": "Rett syndrome"
        },
        {
          "id": 654371,
          "code": "F1011",
          "description": "Kuf's disease"
        },
        {
          "id": 654372,
          "code": "F1012",
          "description": "Spielmeyer-Vogt (Batten) disease"
        },
        {
          "id": 654373,
          "code": "F101200",
          "description": "Spielmeyer-Vogt (Batten) disease"
        },
        {
          "id": 654374,
          "code": "F1012-1",
          "description": "Batten's disease of retina"
        },
        {
          "id": 654375,
          "code": "F101211",
          "description": "Batten's disease of retina"
        },
        {
          "id": 654376,
          "code": "F1031",
          "description": "Cerebral degeneration in mucopolysaccharidoses"
        },
        {
          "id": 654377,
          "code": "F103100",
          "description": "Cerebral degeneration in mucopolysaccharidoses"
        },
        {
          "id": 654378,
          "code": "F10y0",
          "description": "Alper's disease"
        },
        {
          "id": 654379,
          "code": "F10y000",
          "description": "Alper's disease"
        },
        {
          "id": 654380,
          "code": "F10y2",
          "description": "PEHO (progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy) syndrome"
        },
        {
          "id": 654381,
          "code": "F1306",
          "description": "Aicardi Goutieres syndrome"
        },
        {
          "id": 654382,
          "code": "F130600",
          "description": "Aicardi Goutieres syndrome"
        },
        {
          "id": 654383,
          "code": "F1322",
          "description": "Myoclonic encephalopathy"
        },
        {
          "id": 654384,
          "code": "F132200",
          "description": "Myoclonic encephalopathy"
        },
        {
          "id": 654385,
          "code": "F1y0",
          "description": "Fragile X associated tremor ataxia syndrome"
        },
        {
          "id": 654386,
          "code": "F1y0.",
          "description": "Fragile X associated tremor ataxia syndrome"
        },
        {
          "id": 654387,
          "code": "F259.",
          "description": "Early infant epileptic encephalopathy wth suppression bursts"
        },
        {
          "id": 654388,
          "code": "F28y4",
          "description": "GLUT1 deficiency syndrome"
        },
        {
          "id": 654389,
          "code": "F28y400",
          "description": "GLUT1 deficiency syndrome"
        },
        {
          "id": 654390,
          "code": "F28y4-1",
          "description": "Glucose transporter protein type 1 deficiency syndrome"
        },
        {
          "id": 654391,
          "code": "F28y411",
          "description": "Glucose transporter protein type 1 deficiency syndrome"
        },
        {
          "id": 654392,
          "code": "F39X.",
          "description": "Mitochondrial myopathy, not elsewhere classified"
        },
        {
          "id": 654393,
          "code": "Fyu8A",
          "description": "[X]Mitochondrial myopathy, not elsewhere classified"
        },
        {
          "id": 654394,
          "code": "Fyu8A00",
          "description": "[X]Mitochondrial myopathy, not elsewhere classified"
        },
        {
          "id": 654395,
          "code": "G678.",
          "description": "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"
        },
        {
          "id": 654396,
          "code": "P2283",
          "description": "Aicardi syndrome"
        },
        {
          "id": 654397,
          "code": "P228300",
          "description": "Aicardi syndrome"
        },
        {
          "id": 654398,
          "code": "PJ0..",
          "description": "Down's syndrome - trisomy 21"
        },
        {
          "id": 654399,
          "code": "PJ0..11",
          "description": "Mongolism"
        },
        {
          "id": 654400,
          "code": "PJ0..12",
          "description": "Trisomy 21"
        },
        {
          "id": 654401,
          "code": "PJ00",
          "description": "Trisomy 21, meiotic nondisjunction"
        },
        {
          "id": 654402,
          "code": "PJ00.",
          "description": "Trisomy 21, meiotic nondisjunction"
        },
        {
          "id": 654403,
          "code": "PJ0-1",
          "description": "Mongolism"
        },
        {
          "id": 654404,
          "code": "PJ01.",
          "description": "Trisomy 21, mosaicism"
        },
        {
          "id": 654405,
          "code": "PJ01.11",
          "description": "Trisomy 21, mitotic nondisjunction"
        },
        {
          "id": 654406,
          "code": "PJ0-2",
          "description": "Trisomy 21"
        },
        {
          "id": 654407,
          "code": "PJ02.",
          "description": "Trisomy 21, translocation"
        },
        {
          "id": 654408,
          "code": "PJ02.11",
          "description": "Partial trisomy 21 in Down's syndrome"
        },
        {
          "id": 654409,
          "code": "PJ0-98",
          "description": "Down's syndrome"
        },
        {
          "id": 654410,
          "code": "PJ0z.",
          "description": "Down's syndrome - NOS"
        },
        {
          "id": 654411,
          "code": "PJ0z.11",
          "description": "Trisomy 21 NOS"
        },
        {
          "id": 654412,
          "code": "PJ0z-1",
          "description": "Trisomy 21 NOS"
        },
        {
          "id": 654413,
          "code": "PJ32.",
          "description": "Wolf-Hirschorn syndrome"
        },
        {
          "id": 654414,
          "code": "PJ32.11",
          "description": "Wolff - Hirschorn syndrome"
        },
        {
          "id": 654415,
          "code": "PJ32-1",
          "description": "Wolff - Hirschorn syndrome"
        },
        {
          "id": 654416,
          "code": "PJ331",
          "description": "18q-Syndrome"
        },
        {
          "id": 654417,
          "code": "PJ33112",
          "description": "18q- syndrome"
        },
        {
          "id": 654418,
          "code": "PJ33113",
          "description": "18q deletion syndrome"
        },
        {
          "id": 654419,
          "code": "PJ331-2",
          "description": "18q- syndrome"
        },
        {
          "id": 654420,
          "code": "PJ332",
          "description": "18q- syndrome"
        },
        {
          "id": 654421,
          "code": "PJ332-1",
          "description": "18q- syndrome"
        },
        {
          "id": 654422,
          "code": "PJ33211",
          "description": "18q- syndrome"
        },
        {
          "id": 654423,
          "code": "PJ506",
          "description": "Trisomy 12"
        },
        {
          "id": 654424,
          "code": "PJ50600",
          "description": "Trisomy 12"
        },
        {
          "id": 654425,
          "code": "PJ7",
          "description": "Klinefelter's syndrome"
        },
        {
          "id": 654426,
          "code": "PJ7..",
          "description": "Klinefelter's syndrome"
        },
        {
          "id": 654427,
          "code": "PJ70",
          "description": "XXY Klinefelter's syndrome"
        },
        {
          "id": 654428,
          "code": "PJ70.",
          "description": "Klinefelter's phenotype, karyotype 47XXY"
        },
        {
          "id": 654429,
          "code": "PJ71",
          "description": "Klinefelter's syndrome,male with more than two X chromosomes"
        },
        {
          "id": 654430,
          "code": "PJ71.",
          "description": "Klinefelter's syndrome, male with more than two X chromosomes"
        },
        {
          "id": 654431,
          "code": "PJ71.11",
          "description": "Klinefelter's syndrome, XXXY"
        },
        {
          "id": 654432,
          "code": "PJ71.12",
          "description": "Klinefelter's syndrome, XXXXY"
        },
        {
          "id": 654433,
          "code": "PJ71-1",
          "description": "Klinefelter's syndrome, XXXY"
        },
        {
          "id": 654434,
          "code": "PJ71-2",
          "description": "Klinefelter's syndrome, XXXXY"
        },
        {
          "id": 654435,
          "code": "PJ72",
          "description": "Klinefelter's syndrome, male with 46XX karyotype"
        },
        {
          "id": 654436,
          "code": "PJ72.",
          "description": "Klinefelter's syndrome, male with 46XX karyotype"
        },
        {
          "id": 654437,
          "code": "PJ73",
          "description": "Klinefelter's syndrome, XXYY"
        },
        {
          "id": 654438,
          "code": "PJ73.",
          "description": "Klinefelter's syndrome, XXYY"
        },
        {
          "id": 654439,
          "code": "PJ74",
          "description": "Klinefelter's syndrome, XY/XXY mosaic"
        },
        {
          "id": 654440,
          "code": "PJ74.",
          "description": "Klinefelter's syndrome, XY/XXY mosaic"
        },
        {
          "id": 654441,
          "code": "PJ7z",
          "description": "Klinefelter's syndrome NOS"
        },
        {
          "id": 654442,
          "code": "PJ7z.",
          "description": "Klinefelter's syndrome NOS"
        },
        {
          "id": 654443,
          "code": "PJ9",
          "description": "Mowat-Wilson syndrome"
        },
        {
          "id": 654444,
          "code": "PJ9..",
          "description": "Mowat Wilson Syndrome"
        },
        {
          "id": 654445,
          "code": "PJyy2",
          "description": "Fragile X chromosome"
        },
        {
          "id": 654446,
          "code": "PJyy200",
          "description": "Fragile X chromosome"
        },
        {
          "id": 654447,
          "code": "PJyy2-99",
          "description": "Fragile X syndrome"
        },
        {
          "id": 654448,
          "code": "PJyy4",
          "description": "Fragile X syndrome"
        },
        {
          "id": 654449,
          "code": "PJyy400",
          "description": "Fragile X syndrome"
        },
        {
          "id": 654450,
          "code": "PK5",
          "description": "Tuberous sclerosis"
        },
        {
          "id": 654451,
          "code": "PK5..",
          "description": "Tuberous sclerosis"
        },
        {
          "id": 654452,
          "code": "PK61",
          "description": "Sturge-Weber syndrome"
        },
        {
          "id": 654453,
          "code": "PK61.",
          "description": "Sturge-Weber syndrome"
        },
        {
          "id": 654454,
          "code": "PKy63",
          "description": "Smith - Lemli - Opitz syndrome"
        },
        {
          "id": 654455,
          "code": "PKy6300",
          "description": "Smith - Lemli - Opitz syndrome"
        },
        {
          "id": 654456,
          "code": "PKy94",
          "description": "Zellweger's syndrome"
        },
        {
          "id": 654457,
          "code": "PKy9400",
          "description": "Zellweger's syndrome"
        },
        {
          "id": 654458,
          "code": "PKyz5",
          "description": "Angelman syndrome"
        },
        {
          "id": 654459,
          "code": "PKyz5-1",
          "description": "Angelman syndrome"
        },
        {
          "id": 654460,
          "code": "PKyz511",
          "description": "Angelman syndrome"
        },
        {
          "id": 654461,
          "code": "PKyz7",
          "description": "Angelman's syndrome"
        },
        {
          "id": 654462,
          "code": "PKyz700",
          "description": "Angelman's syndrome"
        },
        {
          "id": 654463,
          "code": "PKyz7-1",
          "description": "Angelman syndrome"
        },
        {
          "id": 654464,
          "code": "PKyz711",
          "description": "Angelman syndrome"
        },
        {
          "id": 654465,
          "code": "PyuAB",
          "description": "[X]PALLISTER KILLIAN SYNDROME"
        },
        {
          "id": 654466,
          "code": "PyuAB00",
          "description": "[X]Pallister-Killian syndrome"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 12182,
      "version_name": "Genetic, mitochondrial and chromosomal disorders with associated epilepsy",
      "version_date": "2025-11-27T11:31:31.257027Z",
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      "version_id": 12160,
      "version_name": "Genetic, mitochondrial and chromosomal disorders with associated epilepsy",
      "version_date": "2025-11-21T12:34:21.666290Z",
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      "version_id": 12126,
      "version_name": "Genetic, mitochondrial and chromosomal disorders with associated epilepsy",
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}