{
  "concept_id": 4169,
  "concept_version_id": 11529,
  "coding_system": {
    "id": 9,
    "name": "SNOMED  CT codes",
    "description": "SNOMED CT codes"
  },
  "name": "Metabolic (SNOMED-CT)",
  "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": "PH1711",
  "phenotype_owner_history_id": 3636,
  "requested_entity_id": null,
  "components": [
    {
      "id": 9996,
      "name": "Inclusion 1",
      "logical_type": "INCLUDE",
      "source_type": "FILE_IMPORT",
      "source": "text/csv",
      "codes": [
        {
          "id": 538404,
          "code": "190913009",
          "description": "Congenital porphyria (disorder)"
        },
        {
          "id": 538230,
          "code": "10170007",
          "description": "Black locks, oculocutaneous albinism, AND deafness of the sensorineural type (disorder)"
        },
        {
          "id": 538231,
          "code": "1038000",
          "description": "Disacchariduria (disorder)"
        },
        {
          "id": 538232,
          "code": "10406007",
          "description": "Lesch-Nyhan syndrome (disorder)"
        },
        {
          "id": 538233,
          "code": "10741005",
          "description": "Lipid storage disease (disorder)"
        },
        {
          "id": 538234,
          "code": "10899004",
          "description": "Classical galactosemia, homozygous Duarte-type (disorder)"
        },
        {
          "id": 538235,
          "code": "111032003",
          "description": "Macular cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538236,
          "code": "111285003",
          "description": "Dilated cardiomyopathy secondary to metabolic disorder (disorder)"
        },
        {
          "id": 538237,
          "code": "111301006",
          "description": "Pericarditis due to familial Mediterranean fever (disorder)"
        },
        {
          "id": 538238,
          "code": "111385000",
          "description": "Tay-Sachs disease (disorder)"
        },
        {
          "id": 538239,
          "code": "111386004",
          "description": "Homozygous porphyria cutanea tarda (disorder)"
        },
        {
          "id": 538240,
          "code": "111387008",
          "description": "Porphyria caused by toxic effect of substance (disorder)"
        },
        {
          "id": 538241,
          "code": "111390002",
          "description": "Dominant primary localized cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538242,
          "code": "111396008",
          "description": "Chédiak-Higashi syndrome (disorder)"
        },
        {
          "id": 538243,
          "code": "111397004",
          "description": "Saccharopinuria (disorder)"
        },
        {
          "id": 538244,
          "code": "11160000",
          "description": "Brown oculocutaneous albinism (disorder)"
        },
        {
          "id": 538245,
          "code": "11179002",
          "description": "Glycogen storage disease, type IV (disorder)"
        },
        {
          "id": 538246,
          "code": "11282001",
          "description": "Homocystinuria (disorder)"
        },
        {
          "id": 538247,
          "code": "11380006",
          "description": "Mucopolysaccharidosis (disorder)"
        },
        {
          "id": 538248,
          "code": "11426004",
          "description": "Gingival amyloidosis (disorder)"
        },
        {
          "id": 538249,
          "code": "116020001",
          "description": "Disorder of branched-chain amino acid metabolism (disorder)"
        },
        {
          "id": 538250,
          "code": "12045002",
          "description": "Tryptophanuria with dwarfism (disorder)"
        },
        {
          "id": 538251,
          "code": "12066005",
          "description": "Citrullinemia, late-onset type (disorder)"
        },
        {
          "id": 538252,
          "code": "12246008",
          "description": "Acute neuronopathic Gaucher's disease (disorder)"
        },
        {
          "id": 538253,
          "code": "123810000",
          "description": "Sulfatemia (disorder)"
        },
        {
          "id": 538254,
          "code": "123964001",
          "description": "Uroporphyrinuria (disorder)"
        },
        {
          "id": 538255,
          "code": "123965000",
          "description": "Coproporphyrinuria (disorder)"
        },
        {
          "id": 538256,
          "code": "123966004",
          "description": "Protoporphyrinuria (disorder)"
        },
        {
          "id": 538257,
          "code": "123967008",
          "description": "Tyrosinuria (disorder)"
        },
        {
          "id": 538258,
          "code": "124122005",
          "description": "Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder)"
        },
        {
          "id": 538259,
          "code": "124163004",
          "description": "Deficiency of dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide ^+^) (disorder)"
        },
        {
          "id": 538260,
          "code": "124165006",
          "description": "Deficiency of succinate dehydrogenase (disorder)"
        },
        {
          "id": 538261,
          "code": "124166007",
          "description": "Deficiency of butyryl-CoA dehydrogenase (disorder)"
        },
        {
          "id": 538262,
          "code": "124176005",
          "description": "Deficiency of pyrroline-2-carboxylate reductase (disorder)"
        },
        {
          "id": 538263,
          "code": "124177001",
          "description": "Deficiency of pyrroline-5-carboxylate reductase (disorder)"
        },
        {
          "id": 538264,
          "code": "124178006",
          "description": "Deficiency of dihydrofolate reductase (disorder)"
        },
        {
          "id": 538265,
          "code": "124239003",
          "description": "Deficiency of guanidinoacetate methyltransferase (disorder)"
        },
        {
          "id": 538266,
          "code": "124267007",
          "description": "Deficiency of 1,4-alpha-glucan branching enzyme (disorder)"
        },
        {
          "id": 538267,
          "code": "124275001",
          "description": "Deficiency of hypoxanthine phosphoribosyltransferase (disorder)"
        },
        {
          "id": 538268,
          "code": "124283007",
          "description": "Deficiency of methionine adenosyltransferase (disorder)"
        },
        {
          "id": 538269,
          "code": "124287008",
          "description": "Deficiency of tyrosine aminotransferase (disorder)"
        },
        {
          "id": 538270,
          "code": "124298009",
          "description": "Deficiency of glucokinase (disorder)"
        },
        {
          "id": 538271,
          "code": "124299001",
          "description": "Deficiency of ketohexokinase (disorder)"
        },
        {
          "id": 538272,
          "code": "124300009",
          "description": "Deficiency of fructokinase (disorder)"
        },
        {
          "id": 538273,
          "code": "124302001",
          "description": "Deficiency of galactokinase (disorder)"
        },
        {
          "id": 538274,
          "code": "124314009",
          "description": "Deficiency of adenosine kinase (disorder)"
        },
        {
          "id": 538275,
          "code": "124319004",
          "description": "Deficiency of riboflavin kinase (disorder)"
        },
        {
          "id": 538276,
          "code": "124322002",
          "description": "Deficiency of glycerol kinase (disorder)"
        },
        {
          "id": 538277,
          "code": "124326004",
          "description": "Deficiency of pyridoxal kinase (disorder)"
        },
        {
          "id": 538278,
          "code": "124327008",
          "description": "Deficiency of mevalonate kinase (disorder)"
        },
        {
          "id": 538279,
          "code": "124329006",
          "description": "Deficiency of phosphorylase kinase (disorder)"
        },
        {
          "id": 538280,
          "code": "124330001",
          "description": "Deficiency of homoserine kinase (disorder)"
        },
        {
          "id": 538281,
          "code": "124331002",
          "description": "Deficiency of pyruvate kinase (disorder)"
        },
        {
          "id": 538282,
          "code": "124332009",
          "description": "Deficiency of glucose-1-phosphate phosphodismutase (disorder)"
        },
        {
          "id": 538283,
          "code": "124333004",
          "description": "Deficiency of acetate kinase (disorder)"
        },
        {
          "id": 538284,
          "code": "124334005",
          "description": "Deficiency of carbamate kinase (disorder)"
        },
        {
          "id": 538285,
          "code": "124335006",
          "description": "Deficiency of phosphoglycerate kinase (disorder)"
        },
        {
          "id": 538286,
          "code": "124336007",
          "description": "Deficiency of aspartate kinase (disorder)"
        },
        {
          "id": 538287,
          "code": "124337003",
          "description": "Deficiency of guanidinoacetate kinase (disorder)"
        },
        {
          "id": 538288,
          "code": "124346009",
          "description": "Deficiency of riboflavin mononucleotide adenylyltransferase (disorder)"
        },
        {
          "id": 538289,
          "code": "124352005",
          "description": "Deficiency of uridine triphosphate-glucose-1-phosphate uridylyltransferase (disorder)"
        },
        {
          "id": 538290,
          "code": "124365001",
          "description": "Deficiency of malonate CoA-transferase (disorder)"
        },
        {
          "id": 538291,
          "code": "124418008",
          "description": "Deficiency of cholesterol esterase (disorder)"
        },
        {
          "id": 538292,
          "code": "124426000",
          "description": "Deficiency of succinyl-coenzyme A hydrolase (disorder)"
        },
        {
          "id": 538293,
          "code": "124438009",
          "description": "Deficiency of glucose-1-phosphatase (disorder)"
        },
        {
          "id": 538294,
          "code": "124439001",
          "description": "Deficiency of fructose-bisphosphatase (disorder)"
        },
        {
          "id": 538295,
          "code": "124464003",
          "description": "Deficiency of alpha-galactosidase (disorder)"
        },
        {
          "id": 538296,
          "code": "124465002",
          "description": "Deficiency of beta-galactosidase (disorder)"
        },
        {
          "id": 538297,
          "code": "124531001",
          "description": "Deficiency of adenosinetriphosphatase (disorder)"
        },
        {
          "id": 538298,
          "code": "124534009",
          "description": "Deficiency of adenosine triphosphate pyrophosphatase (disorder)"
        },
        {
          "id": 538299,
          "code": "124536006",
          "description": "Deficiency of fumarylacetoacetase (disorder)"
        },
        {
          "id": 538300,
          "code": "124539004",
          "description": "Deficiency of phosphoamidase (disorder)"
        },
        {
          "id": 538301,
          "code": "124543000",
          "description": "Deficiency of thiolester hydrolase (disorder)"
        },
        {
          "id": 538302,
          "code": "124549001",
          "description": "Deficiency of triphosphoric monoester hydrolase (disorder)"
        },
        {
          "id": 538303,
          "code": "124557003",
          "description": "Deficiency of nucleosidase (disorder)"
        },
        {
          "id": 538304,
          "code": "124559000",
          "description": "Deficiency of thioether hydrolase (disorder)"
        },
        {
          "id": 538305,
          "code": "124561009",
          "description": "Deficiency of ether hydrolase (disorder)"
        },
        {
          "id": 538306,
          "code": "124563007",
          "description": "Deficiency of peptide hydrolase (disorder)"
        },
        {
          "id": 538307,
          "code": "124577005",
          "description": "Deficiency of endoribonuclease (disorder)"
        },
        {
          "id": 538308,
          "code": "124579008",
          "description": "Deficiency of metallocarboxypeptidase (disorder)"
        },
        {
          "id": 538309,
          "code": "124583008",
          "description": "Deficiency of omega peptidase (disorder)"
        },
        {
          "id": 538310,
          "code": "124585001",
          "description": "Deficiency of serine proteinase (disorder)"
        },
        {
          "id": 538311,
          "code": "124591004",
          "description": "Deficiency of metalloproteinase (disorder)"
        },
        {
          "id": 538312,
          "code": "124592006",
          "description": "Deficiency of lyase (disorder)"
        },
        {
          "id": 538313,
          "code": "124593001",
          "description": "Deficiency of pyruvate decarboxylase (disorder)"
        },
        {
          "id": 538314,
          "code": "124594007",
          "description": "Deficiency of malonyl-coenzyme A decarboxylase (disorder)"
        },
        {
          "id": 538315,
          "code": "124599002",
          "description": "Deficiency of tyrosine decarboxylase (disorder)"
        },
        {
          "id": 538316,
          "code": "124600004",
          "description": "Deficiency of aromatic-L-amino-acid decarboxylase (disorder)"
        },
        {
          "id": 538317,
          "code": "124608006",
          "description": "Deficiency of fructose-bisphosphate aldolase (disorder)"
        },
        {
          "id": 538318,
          "code": "124612000",
          "description": "Deficiency of hydroxymethylglutaryl-coenzyme A synthase (disorder)"
        },
        {
          "id": 538319,
          "code": "124616002",
          "description": "Deficiency of fumarate hydratase (disorder)"
        },
        {
          "id": 538320,
          "code": "124621004",
          "description": "Deficiency of enoyl-coenzyme A hydratase (disorder)"
        },
        {
          "id": 538321,
          "code": "124622006",
          "description": "Deficiency of methylglutaconyl-coenzyme A hydratase (disorder)"
        },
        {
          "id": 538322,
          "code": "124628005",
          "description": "Deficiency of histidine ammonia-lyase (disorder)"
        },
        {
          "id": 538323,
          "code": "124667004",
          "description": "Deficiency of ribose-5-phosphate isomerase (disorder)"
        },
        {
          "id": 538324,
          "code": "124669001",
          "description": "Deficiency of glucose-6-phosphate isomerase (disorder)"
        },
        {
          "id": 538325,
          "code": "124670000",
          "description": "Deficiency of glucosamine-6-phosphate isomerase (disorder)"
        },
        {
          "id": 538326,
          "code": "124671001",
          "description": "Deficiency of phenylpyruvate tautomerase (disorder)"
        },
        {
          "id": 538327,
          "code": "124672008",
          "description": "Deficiency of steroid delta-isomerase (disorder)"
        },
        {
          "id": 538328,
          "code": "124673003",
          "description": "Deficiency of isopentenyl-diphosphate delta-isomerase (disorder)"
        },
        {
          "id": 538329,
          "code": "124674009",
          "description": "Deficiency of lysolecithin acylmutase (disorder)"
        },
        {
          "id": 538330,
          "code": "124675005",
          "description": "Deficiency of phosphoglycerate mutase (disorder)"
        },
        {
          "id": 538331,
          "code": "124677002",
          "description": "Deficiency of phosphoacetylglucosamine mutase (disorder)"
        },
        {
          "id": 538332,
          "code": "124679004",
          "description": "Deficiency of methylaspartate mutase (disorder)"
        },
        {
          "id": 538333,
          "code": "124680001",
          "description": "Deficiency of methylmalonyl-coenzyme A mutase (disorder)"
        },
        {
          "id": 538334,
          "code": "124682009",
          "description": "Deficiency of epimerase (disorder)"
        },
        {
          "id": 538335,
          "code": "124684005",
          "description": "Deficiency of racemase (disorder)"
        },
        {
          "id": 538336,
          "code": "124686007",
          "description": "Deficiency of mutase (disorder)"
        },
        {
          "id": 538337,
          "code": "124688008",
          "description": "Deficiency of tyrosine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538338,
          "code": "124689000",
          "description": "Deficiency of tryptophan-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538339,
          "code": "124690009",
          "description": "Deficiency of threonine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538340,
          "code": "124691008",
          "description": "Deficiency of leucine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538341,
          "code": "124692001",
          "description": "Deficiency of isoleucine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538342,
          "code": "124695004",
          "description": "Deficiency of valine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538343,
          "code": "124696003",
          "description": "Deficiency of methionine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538344,
          "code": "124697007",
          "description": "Deficiency of serine-transfer ribonucleic acid ligase (disorder)"
        },
        {
          "id": 538345,
          "code": "124698002",
          "description": "Deficiency of acetate-coenzyme A ligase (disorder)"
        },
        {
          "id": 538346,
          "code": "124699005",
          "description": "Deficiency of long-chain-fatty-acid-CoA ligase (disorder)"
        },
        {
          "id": 538347,
          "code": "124700006",
          "description": "Deficiency of succinate- coenzyme A ligase (guanosine diphosphate-forming) (disorder)"
        },
        {
          "id": 538348,
          "code": "124701005",
          "description": "Deficiency of succinate-coenzyme A ligase (adenosine diphosphate-forming) (disorder)"
        },
        {
          "id": 538349,
          "code": "124711003",
          "description": "Deficiency of argininosuccinate synthase (disorder)"
        },
        {
          "id": 538350,
          "code": "12579009",
          "description": "Familial Mediterranean fever (disorder)"
        },
        {
          "id": 538351,
          "code": "12579009",
          "description": "Familial Mediterranean fever (disorder)"
        },
        {
          "id": 538352,
          "code": "12579009",
          "description": "Familial Mediterranean fever (disorder)"
        },
        {
          "id": 538353,
          "code": "128190004",
          "description": "Inherited metabolic disorder of nervous system (disorder)"
        },
        {
          "id": 538354,
          "code": "128289001",
          "description": "Chronic metabolic disorder (disorder)"
        },
        {
          "id": 538355,
          "code": "128596003",
          "description": "Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538356,
          "code": "129232009",
          "description": "Analbuminemia (finding)"
        },
        {
          "id": 538357,
          "code": "12957008",
          "description": "Disorder of phenylalanine metabolism (disorder)"
        },
        {
          "id": 538358,
          "code": "129589009",
          "description": "Endogenous hyperlipidemia (disorder)"
        },
        {
          "id": 538359,
          "code": "129590000",
          "description": "Exogenous hyperlipidemia (disorder)"
        },
        {
          "id": 538360,
          "code": "129616004",
          "description": "Porphyric polyneuropathy (disorder)"
        },
        {
          "id": 538361,
          "code": "13003007",
          "description": "Cystathioninuria (disorder)"
        },
        {
          "id": 538362,
          "code": "13144005",
          "description": "Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)"
        },
        {
          "id": 538363,
          "code": "13306007",
          "description": "Pipecolic acidemia (disorder)"
        },
        {
          "id": 538364,
          "code": "13644009",
          "description": "Hypercholesterolemia (disorder)"
        },
        {
          "id": 538365,
          "code": "139811000119109",
          "description": "Homozygous methylenetetrahydrofolate reductase mutation (disorder)"
        },
        {
          "id": 538366,
          "code": "139821000119102",
          "description": "Heterozygous methylenetetrahydrofolate reductase mutation (disorder)"
        },
        {
          "id": 538367,
          "code": "14210003",
          "description": "Lipofuscinosis (disorder)"
        },
        {
          "id": 538368,
          "code": "14637005",
          "description": "Late-infantile neuronal ceroid lipofuscinosis (disorder)"
        },
        {
          "id": 538369,
          "code": "15123008",
          "description": "Familial amyloid nephropathy with urticaria AND deafness (disorder)"
        },
        {
          "id": 538370,
          "code": "15285008",
          "description": "Adenylosuccinate lyase deficiency (disorder)"
        },
        {
          "id": 538371,
          "code": "15771000119109",
          "description": "Familial hyperalphalipoproteinemia (disorder)"
        },
        {
          "id": 538372,
          "code": "15890002",
          "description": "Albinism (disorder)"
        },
        {
          "id": 538373,
          "code": "15892005",
          "description": "Mucopolysaccharidosis III-D (disorder)"
        },
        {
          "id": 538374,
          "code": "15978003",
          "description": "Glycogen storage disease, muscular form (disorder)"
        },
        {
          "id": 538375,
          "code": "16242007",
          "description": "Hereditary orotic aciduria (disorder)"
        },
        {
          "id": 538376,
          "code": "16517004",
          "description": "Cerebral lipidosis (disorder)"
        },
        {
          "id": 538377,
          "code": "16573007",
          "description": "Senile cardiac amyloidosis (disorder)"
        },
        {
          "id": 538378,
          "code": "16652001",
          "description": "Fabry's disease (disorder)"
        },
        {
          "id": 538379,
          "code": "1671000",
          "description": "Sago spleen (disorder)"
        },
        {
          "id": 538380,
          "code": "16784003",
          "description": "Amino acid transport disorder (disorder)"
        },
        {
          "id": 538381,
          "code": "16813005",
          "description": "Hyperuricuria (disorder)"
        },
        {
          "id": 538382,
          "code": "17602002",
          "description": "Amyloidosis (disorder)"
        },
        {
          "id": 538383,
          "code": "17827007",
          "description": "Cross syndrome (disorder)"
        },
        {
          "id": 538384,
          "code": "17901006",
          "description": "Primary hyperoxaluria (disorder)"
        },
        {
          "id": 538385,
          "code": "180485001",
          "description": "Kerasin thesaurismosis (disorder)"
        },
        {
          "id": 538386,
          "code": "18756002",
          "description": "Juvenile GM1 gangliosidosis (disorder)"
        },
        {
          "id": 538387,
          "code": "18789002",
          "description": "Tryptophanuria (disorder)"
        },
        {
          "id": 538388,
          "code": "18927009",
          "description": "Niemann-Pick disease, type D (disorder)"
        },
        {
          "id": 538389,
          "code": "189979005",
          "description": "Globoid cell leukodystrophy, early onset (disorder)"
        },
        {
          "id": 538390,
          "code": "190680002",
          "description": "Disorders of amino acid transport and metabolism (disorder)"
        },
        {
          "id": 538391,
          "code": "190681003",
          "description": "Cystinosis (disorder)"
        },
        {
          "id": 538392,
          "code": "190694001",
          "description": "Tyrosinemia (disorder)"
        },
        {
          "id": 538393,
          "code": "190701006",
          "description": "Isoleucinosis (disorder)"
        },
        {
          "id": 538394,
          "code": "190722000",
          "description": "Disorder of threonine metabolism (disorder)"
        },
        {
          "id": 538395,
          "code": "190724004",
          "description": "Disorder of glutamine metabolism (disorder)"
        },
        {
          "id": 538396,
          "code": "190732007",
          "description": "Alaninemia (disorder)"
        },
        {
          "id": 538397,
          "code": "190737001",
          "description": "Iminoacidopathy (disorder)"
        },
        {
          "id": 538398,
          "code": "190745006",
          "description": "Galactosemia (disorder)"
        },
        {
          "id": 538399,
          "code": "190760009",
          "description": "Disorders of pyruvate metabolism and gluconeogenesis (disorder)"
        },
        {
          "id": 538400,
          "code": "190764000",
          "description": "Essential pentosuria (disorder)"
        },
        {
          "id": 538401,
          "code": "190773008",
          "description": "Hyperbetalipoproteinemia (disorder)"
        },
        {
          "id": 538402,
          "code": "190774002",
          "description": "Hyperlipidemia, group A (disorder)"
        },
        {
          "id": 538403,
          "code": "190794006",
          "description": "Glucosylceramide beta-glucosidase deficiency (disorder)"
        },
        {
          "id": 538405,
          "code": "190915002",
          "description": "Coproporphyria (disorder)"
        },
        {
          "id": 538406,
          "code": "190919008",
          "description": "Xanthinuria (disorder)"
        },
        {
          "id": 538407,
          "code": "190923000",
          "description": "Sporadic primary amyloidosis (disorder)"
        },
        {
          "id": 538408,
          "code": "190944000",
          "description": "Alpha-1-antitrypsin hepatitis (disorder)"
        },
        {
          "id": 538409,
          "code": "192781003",
          "description": "Leukodystrophy (disorder)"
        },
        {
          "id": 538410,
          "code": "192782005",
          "description": "Galactosylceramide beta-galactosidase deficiency (disorder)"
        },
        {
          "id": 538411,
          "code": "192787004",
          "description": "B variant hexosaminidase A deficiency (disorder)"
        },
        {
          "id": 538412,
          "code": "192791009",
          "description": "Cerebral degeneration in Gaucher's disease (disorder)"
        },
        {
          "id": 538413,
          "code": "192792002",
          "description": "Cerebral degeneration in Niemann-Pick disease (disorder)"
        },
        {
          "id": 538414,
          "code": "192795000",
          "description": "Cerebral degeneration in Hunter's disease (disorder)"
        },
        {
          "id": 538415,
          "code": "192796004",
          "description": "Cerebral degeneration in mucopolysaccharidosis (disorder)"
        },
        {
          "id": 538416,
          "code": "193187004",
          "description": "Polyneuropathy due to amyloidosis (disorder)"
        },
        {
          "id": 538417,
          "code": "193247000",
          "description": "Amyloid myopathy (disorder)"
        },
        {
          "id": 538418,
          "code": "195027000",
          "description": "Mucopolysaccharidosis cardiomyopathy (disorder)"
        },
        {
          "id": 538419,
          "code": "196135008",
          "description": "Pulmonary amyloidosis (disorder)"
        },
        {
          "id": 538420,
          "code": "197604006",
          "description": "Nephrotic syndrome in amyloidosis (disorder)"
        },
        {
          "id": 538421,
          "code": "20052008",
          "description": "Fructose-1,6-bisphosphate aldolase B deficiency (disorder)"
        },
        {
          "id": 538422,
          "code": "20155007",
          "description": "Secondary orotic aciduria (disorder)"
        },
        {
          "id": 538423,
          "code": "206458002",
          "description": "Neonatal jaundice with porphyria (disorder)"
        },
        {
          "id": 538424,
          "code": "206470003",
          "description": "Perinatal jaundice due to galactosemia (disorder)"
        },
        {
          "id": 538425,
          "code": "209962000",
          "description": "Myeloma-associated amyloidosis (disorder)"
        },
        {
          "id": 538426,
          "code": "21764004",
          "description": "Renal carnitine transport defect (disorder)"
        },
        {
          "id": 538427,
          "code": "21952001",
          "description": "Cystinuria, type 2 (disorder)"
        },
        {
          "id": 538428,
          "code": "22011005",
          "description": "Hartnup disorder, renal type (disorder)"
        },
        {
          "id": 538429,
          "code": "22062008",
          "description": "X-linked glutaric aciduria, type 2 (disorder)"
        },
        {
          "id": 538430,
          "code": "226309007",
          "description": "Familial renal glucosuria (disorder)"
        },
        {
          "id": 538431,
          "code": "22684007",
          "description": "Methylcrotonic aciduria (disorder)"
        },
        {
          "id": 538432,
          "code": "22830006",
          "description": "Juvenile nephropathic cystinosis (disorder)"
        },
        {
          "id": 538433,
          "code": "22886006",
          "description": "Glutaric aciduria, type 2 (disorder)"
        },
        {
          "id": 538434,
          "code": "22935002",
          "description": "Congenital erythropoietic porphyria (disorder)"
        },
        {
          "id": 538435,
          "code": "230367007",
          "description": "Neuroaxonal leukodystrophy (disorder)"
        },
        {
          "id": 538436,
          "code": "230368002",
          "description": "Type III transitional Pelizaeus-Merzbacher disease (disorder)"
        },
        {
          "id": 538437,
          "code": "230369005",
          "description": "Type IV adult Pelizaeus-Merzbacher disease (disorder)"
        },
        {
          "id": 538438,
          "code": "230370006",
          "description": "Type V atypical Pelizaeus-Merzbacher disease (disorder)"
        },
        {
          "id": 538439,
          "code": "230371005",
          "description": "Type VI Cockayne Pelizaeus-Merzbacher disease (disorder)"
        },
        {
          "id": 538440,
          "code": "230724001",
          "description": "Cerebral amyloid angiopathy (disorder)"
        },
        {
          "id": 538441,
          "code": "230725000",
          "description": "Sporadic cerebral amyloid angiopathy (disorder)"
        },
        {
          "id": 538442,
          "code": "23132008",
          "description": "Amyloid light-chain amyloidosis (disorder)"
        },
        {
          "id": 538443,
          "code": "23156007",
          "description": "Mild maple syrup urine disease (disorder)"
        },
        {
          "id": 538444,
          "code": "232076001",
          "description": "Amyloid of vitreous (disorder)"
        },
        {
          "id": 538445,
          "code": "232459006",
          "description": "Laryngeal amyloidosis (disorder)"
        },
        {
          "id": 538446,
          "code": "23272008",
          "description": "Familial hypoceruloplasminemia (disorder)"
        },
        {
          "id": 538447,
          "code": "234422006",
          "description": "Acute intermittent porphyria (disorder)"
        },
        {
          "id": 538448,
          "code": "234510005",
          "description": "Amyloidosis of spleen (disorder)"
        },
        {
          "id": 538449,
          "code": "23501004",
          "description": "Arginase deficiency (disorder)"
        },
        {
          "id": 538450,
          "code": "23569000",
          "description": "Glucoaminophosphaturia syndrome with rickets (disorder)"
        },
        {
          "id": 538451,
          "code": "2359002",
          "description": "Hyper-beta-alaninemia (disorder)"
        },
        {
          "id": 538452,
          "code": "235908005",
          "description": "Glycogen storage disease type IX (disorder)"
        },
        {
          "id": 538453,
          "code": "236475007",
          "description": "Dibasic aminoaciduria (disorder)"
        },
        {
          "id": 538454,
          "code": "236477004",
          "description": "Glycinuria (disorder)"
        },
        {
          "id": 538455,
          "code": "236478009",
          "description": "Familial renal hypouricemia (disorder)"
        },
        {
          "id": 538456,
          "code": "236543006",
          "description": "Beta-2 microglobulin arthropathy (disorder)"
        },
        {
          "id": 538457,
          "code": "237867001",
          "description": "Hereditary cerebrovascular amyloidosis (disorder)"
        },
        {
          "id": 538458,
          "code": "237868006",
          "description": "Familial non-neuropathic amyloidosis (disorder)"
        },
        {
          "id": 538459,
          "code": "237869003",
          "description": "Localized hereditary amyloidosis (disorder)"
        },
        {
          "id": 538460,
          "code": "237870002",
          "description": "Familial lichen amyloidosis (disorder)"
        },
        {
          "id": 538461,
          "code": "237872005",
          "description": "Poikilodermal cutaneous amyloid (disorder)"
        },
        {
          "id": 538462,
          "code": "237873000",
          "description": "Primary familial amyloid myopathy (disorder)"
        },
        {
          "id": 538463,
          "code": "237874006",
          "description": "Primary sporadic amyloid myopathy (disorder)"
        },
        {
          "id": 538464,
          "code": "237875007",
          "description": "Localized non-hereditary amyloidosis (disorder)"
        },
        {
          "id": 538465,
          "code": "237876008",
          "description": "Arthritis secondary to amyloidosis (disorder)"
        },
        {
          "id": 538466,
          "code": "237877004",
          "description": "Wild type ATTR amyloidosis (disorder)"
        },
        {
          "id": 538467,
          "code": "237888005",
          "description": "Hypophosphatemic rickets with nephrotic-glycosuric dwarfism (disorder)"
        },
        {
          "id": 538468,
          "code": "237911005",
          "description": "Disorder of amino acid and organic acid metabolism (disorder)"
        },
        {
          "id": 538469,
          "code": "237919007",
          "description": "Minimal pigment oculocutaneous albinism (disorder)"
        },
        {
          "id": 538470,
          "code": "237920001",
          "description": "Temperature-sensitive oculocutaneous albinism (disorder)"
        },
        {
          "id": 538471,
          "code": "237921002",
          "description": "Disorder of catecholamine synthesis (disorder)"
        },
        {
          "id": 538472,
          "code": "237926007",
          "description": "Glutathione synthase deficiency without 5-oxoprolinuria (disorder)"
        },
        {
          "id": 538473,
          "code": "237928008",
          "description": "Disorder of ornithine metabolism (disorder)"
        },
        {
          "id": 538474,
          "code": "237929000",
          "description": "Disorder of lysine and hydroxylysine metabolism (disorder)"
        },
        {
          "id": 538475,
          "code": "237931009",
          "description": "2-Ketoadipic acidemia (disorder)"
        },
        {
          "id": 538476,
          "code": "237933007",
          "description": "Transcobalamin I deficiency (disorder)"
        },
        {
          "id": 538477,
          "code": "237937008",
          "description": "Deficiency of Cobalamin E (disorder)"
        },
        {
          "id": 538478,
          "code": "237938003",
          "description": "Deficiency of Cobalamin G (disorder)"
        },
        {
          "id": 538479,
          "code": "237939006",
          "description": "Non-ketotic hyperglycinemia (disorder)"
        },
        {
          "id": 538480,
          "code": "237940008",
          "description": "Disorder of beta and omega amino acid metabolism (disorder)"
        },
        {
          "id": 538481,
          "code": "237941007",
          "description": "Gamma-aminobutyric acid transaminase deficiency (disorder)"
        },
        {
          "id": 538482,
          "code": "237944004",
          "description": "Valinosis (disorder)"
        },
        {
          "id": 538483,
          "code": "237945003",
          "description": "Complete deficiency of methylmalonyl-coenzyme A mutase (disorder)"
        },
        {
          "id": 538484,
          "code": "237946002",
          "description": "Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)"
        },
        {
          "id": 538485,
          "code": "237950009",
          "description": "3-Methylglutaconic aciduria (disorder)"
        },
        {
          "id": 538486,
          "code": "237951008",
          "description": "3-Methylglutaconic aciduria type 1 (disorder)"
        },
        {
          "id": 538487,
          "code": "237952001",
          "description": "3-Methylglutaconic aciduria with normal 3-methylglutaconyl-coenzyme A hydratase activity (disorder)"
        },
        {
          "id": 538488,
          "code": "237953006",
          "description": "Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated (disorder)"
        },
        {
          "id": 538489,
          "code": "237954000",
          "description": "Mitochondrial 2-methylacetoacetyl-coenzyme A thiolase deficiency - non-potassium stimulated (disorder)"
        },
        {
          "id": 538490,
          "code": "237955004",
          "description": "Cytosolic acetoacetyl-coenzyme A thiolase deficiency (disorder)"
        },
        {
          "id": 538491,
          "code": "237957007",
          "description": "3-Hydroxyisobutyric aciduria (disorder)"
        },
        {
          "id": 538492,
          "code": "237960000",
          "description": "D-2-hydroxyglutaric aciduria (disorder)"
        },
        {
          "id": 538493,
          "code": "237961001",
          "description": "L-2-hydroxyglutaric aciduria (disorder)"
        },
        {
          "id": 538494,
          "code": "237963003",
          "description": "Disorder of galactose metabolism (disorder)"
        },
        {
          "id": 538495,
          "code": "237964009",
          "description": "Glycogen synthase deficiency (disorder)"
        },
        {
          "id": 538496,
          "code": "237965005",
          "description": "Phosphate transport defect (disorder)"
        },
        {
          "id": 538497,
          "code": "237966006",
          "description": "Glucose transport defect (disorder)"
        },
        {
          "id": 538498,
          "code": "237977000",
          "description": "Disorder of glycerol metabolism (disorder)"
        },
        {
          "id": 538499,
          "code": "237980004",
          "description": "D-Glyceric aciduria (disorder)"
        },
        {
          "id": 538500,
          "code": "237981000",
          "description": "Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)"
        },
        {
          "id": 538501,
          "code": "237982007",
          "description": "Lactate dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538502,
          "code": "237983002",
          "description": "Fumarase deficiency (disorder)"
        },
        {
          "id": 538503,
          "code": "237994003",
          "description": "Deletion and duplication of mitochondrial deoxyribonucleic acid (disorder)"
        },
        {
          "id": 538504,
          "code": "237996001",
          "description": "Long chain acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538505,
          "code": "237997005",
          "description": "Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538506,
          "code": "237998000",
          "description": "Short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538507,
          "code": "237999008",
          "description": "Mitochondrial trifunctional protein deficiency (disorder)"
        },
        {
          "id": 538508,
          "code": "238000002",
          "description": "Combined deficiency of long chain 3-hydroxyacyl-coenzyme A dehydrogenase and enoyl-coenzyme A hydratase (disorder)"
        },
        {
          "id": 538509,
          "code": "238001003",
          "description": "Carnitine palmitoyltransferase I deficiency (disorder)"
        },
        {
          "id": 538510,
          "code": "238002005",
          "description": "Carnitine palmitoyltransferase II deficiency (disorder)"
        },
        {
          "id": 538511,
          "code": "238003000",
          "description": "Carnitine acylcarnitine translocase deficiency (disorder)"
        },
        {
          "id": 538512,
          "code": "238004006",
          "description": "Succinyl-coenzyme A acetoacetate transferase deficiency (disorder)"
        },
        {
          "id": 538513,
          "code": "238006008",
          "description": "Disorder of purine and pyrimidine metabolism (disorder)"
        },
        {
          "id": 538514,
          "code": "238017009",
          "description": "Disorder of lipid storage and metabolism (disorder)"
        },
        {
          "id": 538515,
          "code": "238018004",
          "description": "Total hexosaminidase deficiency - infantile (disorder)"
        },
        {
          "id": 538516,
          "code": "238019007",
          "description": "Total hexosaminidase deficiency - juvenile (disorder)"
        },
        {
          "id": 538517,
          "code": "238020001",
          "description": "Total hexosaminidase deficiency - adult (disorder)"
        },
        {
          "id": 538518,
          "code": "238021002",
          "description": "B variant hexosaminidase A deficiency - infantile (disorder)"
        },
        {
          "id": 538519,
          "code": "238022009",
          "description": "B variant hexosaminidase A deficiency - juvenile (disorder)"
        },
        {
          "id": 538520,
          "code": "238023004",
          "description": "B variant hexosaminidase A deficiency - adult (disorder)"
        },
        {
          "id": 538521,
          "code": "238024005",
          "description": "B1 variant hexosaminidase A deficiency (disorder)"
        },
        {
          "id": 538522,
          "code": "238025006",
          "description": "GM1 gangliosidosis (disorder)"
        },
        {
          "id": 538523,
          "code": "238026007",
          "description": "Infantile GM1 gangliosidosis (disorder)"
        },
        {
          "id": 538524,
          "code": "238027003",
          "description": "Adult GM1 gangliosidosis (disorder)"
        },
        {
          "id": 538525,
          "code": "238028008",
          "description": "Sphingolipidosis (disorder)"
        },
        {
          "id": 538526,
          "code": "238030005",
          "description": "Galactocerebroside beta-galactosidase deficiency - early onset (disorder)"
        },
        {
          "id": 538527,
          "code": "238031009",
          "description": "Arylsulfatase A deficiency (disorder)"
        },
        {
          "id": 538528,
          "code": "238033007",
          "description": "3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538529,
          "code": "238035000",
          "description": "Delta-4-3-oxosteroid-5-beta-reductase deficiency (disorder)"
        },
        {
          "id": 538530,
          "code": "238036004",
          "description": "Disorder of cholesterol synthesis (disorder)"
        },
        {
          "id": 538531,
          "code": "238038003",
          "description": "Familial hyperlipoproteinemia (disorder)"
        },
        {
          "id": 538532,
          "code": "238040008",
          "description": "Familial combined hyperlipidemia (disorder)"
        },
        {
          "id": 538533,
          "code": "238043005",
          "description": "Disorder of glycosaminoglycan metabolism (disorder)"
        },
        {
          "id": 538534,
          "code": "238044004",
          "description": "Mucopolysaccharidosis type IVB (disorder)"
        },
        {
          "id": 538535,
          "code": "238045003",
          "description": "Disorder of glycoprotein metabolism (disorder)"
        },
        {
          "id": 538536,
          "code": "238048001",
          "description": "Alpha-N-acetylgalactosaminidase deficiency (disorder)"
        },
        {
          "id": 538537,
          "code": "238053006",
          "description": "Homozygous erythropoietic protoporphyria (disorder)"
        },
        {
          "id": 538538,
          "code": "238054000",
          "description": "Homozygous acute intermittent porphyria (disorder)"
        },
        {
          "id": 538539,
          "code": "238056003",
          "description": "Homozygous hereditary coproporphyria (disorder)"
        },
        {
          "id": 538540,
          "code": "238057007",
          "description": "Homozygous variegate porphyria (disorder)"
        },
        {
          "id": 538541,
          "code": "238061001",
          "description": "Neonatal adrenoleucodystrophy (disorder)"
        },
        {
          "id": 538542,
          "code": "238063003",
          "description": "Loss of multiple peroxisomal functions (disorder)"
        },
        {
          "id": 538543,
          "code": "238066006",
          "description": "Loss of single peroxisomal function (disorder)"
        },
        {
          "id": 538544,
          "code": "238069004",
          "description": "Acyl-coenzyme A oxidase deficiency (disorder)"
        },
        {
          "id": 538545,
          "code": "238070003",
          "description": "Glutaryl-coenzyme A oxidase deficiency (disorder)"
        },
        {
          "id": 538546,
          "code": "238072006",
          "description": "Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)"
        },
        {
          "id": 538547,
          "code": "238076009",
          "description": "Primary hypercholesterolemia (disorder)"
        },
        {
          "id": 538548,
          "code": "238077000",
          "description": "Polygenic hypercholesterolemia (disorder)"
        },
        {
          "id": 538549,
          "code": "238078005",
          "description": "Familial hypercholesterolemia - homozygous (disorder)"
        },
        {
          "id": 538550,
          "code": "238079002",
          "description": "Familial hypercholesterolemia - heterozygous (disorder)"
        },
        {
          "id": 538551,
          "code": "238080004",
          "description": "Hyperalphalipoproteinemia (disorder)"
        },
        {
          "id": 538552,
          "code": "238081000",
          "description": "Familial defective apolipoprotein B-100 (disorder)"
        },
        {
          "id": 538553,
          "code": "238082007",
          "description": "Secondary hypercholesterolemia (disorder)"
        },
        {
          "id": 538554,
          "code": "238083002",
          "description": "Primary hypertriglyceridemia (disorder)"
        },
        {
          "id": 538555,
          "code": "238084008",
          "description": "Very low density lipoprotinemia (disorder)"
        },
        {
          "id": 538556,
          "code": "238085009",
          "description": "Fredrickson type IV hyperlipoproteinemia (disorder)"
        },
        {
          "id": 538557,
          "code": "238087001",
          "description": "Secondary hypertriglyceridemia (disorder)"
        },
        {
          "id": 538558,
          "code": "238088006",
          "description": "Primary combined hyperlipidemia (disorder)"
        },
        {
          "id": 538559,
          "code": "238112001",
          "description": "Carnitine nutritional deficiency (disorder)"
        },
        {
          "id": 538560,
          "code": "23849003",
          "description": "Sandhoff disease (disorder)"
        },
        {
          "id": 538561,
          "code": "23860007",
          "description": "Xylosuria (disorder)"
        },
        {
          "id": 538562,
          "code": "239000007",
          "description": "Drug-induced pseudoporphyria (disorder)"
        },
        {
          "id": 538563,
          "code": "24013007",
          "description": "Hyperleucinemia (disorder)"
        },
        {
          "id": 538564,
          "code": "24308003",
          "description": "Cystathionine beta-synthase deficiency (disorder)"
        },
        {
          "id": 538565,
          "code": "24326000",
          "description": "Metachromatic leukodystrophy, adult type (disorder)"
        },
        {
          "id": 538566,
          "code": "24338009",
          "description": "Fructosuria (disorder)"
        },
        {
          "id": 538567,
          "code": "25010000",
          "description": "Benign adult cystinosis (disorder)"
        },
        {
          "id": 538568,
          "code": "25067009",
          "description": "Autosomal variant form of transthyretin (disorder)"
        },
        {
          "id": 538569,
          "code": "254069004",
          "description": "Dysostosis multiplex (disorder)"
        },
        {
          "id": 538570,
          "code": "25425008",
          "description": "Autosomal recessive glutaric aciduria, type 2 (disorder)"
        },
        {
          "id": 538571,
          "code": "25739007",
          "description": "Hyperhydroxyprolinemia (disorder)"
        },
        {
          "id": 538572,
          "code": "25765006",
          "description": "Neonatal iminoglycinuria (disorder)"
        },
        {
          "id": 538573,
          "code": "26015003",
          "description": "Maroteaux-Lamy syndrome, intermediate form (disorder)"
        },
        {
          "id": 538574,
          "code": "26111005",
          "description": "Metabolic myopathy (disorder)"
        },
        {
          "id": 538575,
          "code": "26132002",
          "description": "5-Oxoprolinase deficiency (disorder)"
        },
        {
          "id": 538576,
          "code": "26336006",
          "description": "Tyrosinase-positive oculocutaneous albinism (disorder)"
        },
        {
          "id": 538577,
          "code": "26399002",
          "description": "Ocular albinism (disorder)"
        },
        {
          "id": 538578,
          "code": "265569002",
          "description": "Aland eye disease and ocular albinism (disorder)"
        },
        {
          "id": 538579,
          "code": "267424007",
          "description": "Generalized glycogenosis (disorder)"
        },
        {
          "id": 538580,
          "code": "267430007",
          "description": "Renal glycosuria (disorder)"
        },
        {
          "id": 538581,
          "code": "267432004",
          "description": "Pure hypercholesterolemia (disorder)"
        },
        {
          "id": 538582,
          "code": "267433009",
          "description": "Pure hyperglyceridemia (disorder)"
        },
        {
          "id": 538583,
          "code": "26745009",
          "description": "Mucopolysaccharidosis type I-H/S (disorder)"
        },
        {
          "id": 538584,
          "code": "27097002",
          "description": "Danish type familial amyloid cardiomyopathy (disorder)"
        },
        {
          "id": 538585,
          "code": "271847005",
          "description": "Hereditary hypertyrosinemia (disorder)"
        },
        {
          "id": 538586,
          "code": "273700000",
          "description": "Hyper-beta-carnosinemia (disorder)"
        },
        {
          "id": 538587,
          "code": "27373000",
          "description": "Fumarylacetoacetase deficiency, acute type (disorder)"
        },
        {
          "id": 538588,
          "code": "274864009",
          "description": "Glycogen storage disease, type II (disorder)"
        },
        {
          "id": 538589,
          "code": "274945004",
          "description": "Amyloid A amyloidosis (disorder)"
        },
        {
          "id": 538590,
          "code": "275598004",
          "description": "Familial lipoprotein lipase deficiency (disorder)"
        },
        {
          "id": 538591,
          "code": "276262000",
          "description": "Uroporphyrinogen decarboxylase deficiency (disorder)"
        },
        {
          "id": 538592,
          "code": "276263005",
          "description": "Porphobilinogen deaminase deficiency (disorder)"
        },
        {
          "id": 538593,
          "code": "276426004",
          "description": "Ornithine oxo-acid aminotransferase deficiency (disorder)"
        },
        {
          "id": 538594,
          "code": "27718001",
          "description": "Maple syrup urine disease (disorder)"
        },
        {
          "id": 538595,
          "code": "277893002",
          "description": "Carbohydrate-deficient glycoprotein syndrome type I (disorder)"
        },
        {
          "id": 538596,
          "code": "277894008",
          "description": "Carbohydrate-deficient glycoprotein syndrome type II (disorder)"
        },
        {
          "id": 538597,
          "code": "277895009",
          "description": "Carbohydrate-deficient glycoprotein syndrome type III (disorder)"
        },
        {
          "id": 538598,
          "code": "278899001",
          "description": "Amyloid of bladder (disorder)"
        },
        {
          "id": 538599,
          "code": "278991002",
          "description": "Sialic storage disease (disorder)"
        },
        {
          "id": 538600,
          "code": "28183005",
          "description": "Fructose-biphosphatase deficiency (disorder)"
        },
        {
          "id": 538601,
          "code": "282355000",
          "description": "Amyloid of testes (disorder)"
        },
        {
          "id": 538602,
          "code": "282357008",
          "description": "Amyloid of ureter (disorder)"
        },
        {
          "id": 538603,
          "code": "287266002",
          "description": "Muscle D-lactate dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538604,
          "code": "28882002",
          "description": "Disorder of sulfur-bearing amino acid metabolism (disorder)"
        },
        {
          "id": 538605,
          "code": "28987007",
          "description": "Glutaric aciduria (disorder)"
        },
        {
          "id": 538606,
          "code": "29094004",
          "description": "Disorder of porphyrin metabolism (disorder)"
        },
        {
          "id": 538607,
          "code": "29291001",
          "description": "Glycogen storage disease, type VI (disorder)"
        },
        {
          "id": 538608,
          "code": "29633007",
          "description": "Glycogen storage disease (disorder)"
        },
        {
          "id": 538609,
          "code": "29692004",
          "description": "Combined molybdoflavoprotein enzyme deficiency (disorder)"
        },
        {
          "id": 538610,
          "code": "297226004",
          "description": "Disorder of creatine synthesis (disorder)"
        },
        {
          "id": 538611,
          "code": "297231002",
          "description": "3-Methylglutaconic aciduria type 2 (disorder)"
        },
        {
          "id": 538612,
          "code": "297232009",
          "description": "3-Methylglutaconic aciduria type 3 (disorder)"
        },
        {
          "id": 538613,
          "code": "297233004",
          "description": "3-Methylglutaconic aciduria type 4 (disorder)"
        },
        {
          "id": 538614,
          "code": "297235006",
          "description": "Unclassified 3-methylglutaconic aciduria (disorder)"
        },
        {
          "id": 538615,
          "code": "297237003",
          "description": "Generalized uridine diphosphate galactose-4-epimerase deficiency (disorder)"
        },
        {
          "id": 538616,
          "code": "297238008",
          "description": "Erythrocyte uridine diphosphate galactose-4-epimerase deficiency (disorder)"
        },
        {
          "id": 538617,
          "code": "297251003",
          "description": "Glycogen phosphorylase kinase deficiency, X-linked (disorder)"
        },
        {
          "id": 538618,
          "code": "297252005",
          "description": "Glycogen phosphorylase kinase deficiency, autosomal recessive (disorder)"
        },
        {
          "id": 538619,
          "code": "297253000",
          "description": "Cardiac glycogen phosphorylase kinase deficiency (disorder)"
        },
        {
          "id": 538620,
          "code": "297254006",
          "description": "Hepatic and muscle glycogen phosphorylase kinase deficiency (disorder)"
        },
        {
          "id": 538621,
          "code": "297255007",
          "description": "Hepatic glycogen phosphorylase kinase deficiency (disorder)"
        },
        {
          "id": 538622,
          "code": "297256008",
          "description": "Glycerol kinase deficiency - isolated (disorder)"
        },
        {
          "id": 538623,
          "code": "297257004",
          "description": "Glycerol kinase deficiency - contiguous gene syndrome (disorder)"
        },
        {
          "id": 538624,
          "code": "297278001",
          "description": "Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)"
        },
        {
          "id": 538625,
          "code": "29914000",
          "description": "Dihydrolipoamide dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538626,
          "code": "30101004",
          "description": "Neonatal cystine-lysinuria (disorder)"
        },
        {
          "id": 538627,
          "code": "30102006",
          "description": "Glucose-6-phosphate transport defect (disorder)"
        },
        {
          "id": 538628,
          "code": "30188007",
          "description": "Alpha-1-antitrypsin deficiency (disorder)"
        },
        {
          "id": 538629,
          "code": "302870006",
          "description": "Hypertriglyceridemia (disorder)"
        },
        {
          "id": 538630,
          "code": "30287008",
          "description": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)"
        },
        {
          "id": 538631,
          "code": "30295007",
          "description": "Renal glucosuria, type B (disorder)"
        },
        {
          "id": 538632,
          "code": "303092001",
          "description": "Non-ketotic hyperglycinemia H protein deficiency (disorder)"
        },
        {
          "id": 538633,
          "code": "303093006",
          "description": "Non-ketotic hyperglycinemia L protein deficiency (disorder)"
        },
        {
          "id": 538692,
          "code": "373607009",
          "description": "Oxalosis (disorder)"
        },
        {
          "id": 538634,
          "code": "303094000",
          "description": "Propionyl-coenzyme A carboxylase deficiency pccA complementation group (disorder)"
        },
        {
          "id": 538635,
          "code": "303095004",
          "description": "Propionyl-coenzyme A carboxylase deficiency pccBC complementation group (disorder)"
        },
        {
          "id": 538636,
          "code": "303097007",
          "description": "Disorder of serine metabolism (disorder)"
        },
        {
          "id": 538637,
          "code": "303098002",
          "description": "3-Phosphoglycerate dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538638,
          "code": "303852004",
          "description": "Lysinuric protein intolerance (disorder)"
        },
        {
          "id": 538639,
          "code": "30529005",
          "description": "Citrullinemia, neonatal type (disorder)"
        },
        {
          "id": 538640,
          "code": "307127004",
          "description": "Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538641,
          "code": "307128009",
          "description": "Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538642,
          "code": "307130006",
          "description": "3-Ketoacyl-coenzyme A triolase deficiency (disorder)"
        },
        {
          "id": 538643,
          "code": "30884007",
          "description": "Restrictive cardiomyopathy secondary to familial storage disease (disorder)"
        },
        {
          "id": 538644,
          "code": "311495006",
          "description": "Amyloid disease of the urethra (disorder)"
        },
        {
          "id": 538645,
          "code": "31220004",
          "description": "Cobalamin D disease (disorder)"
        },
        {
          "id": 538646,
          "code": "312857009",
          "description": "Alpha-2-antitrypsin deficiency (disorder)"
        },
        {
          "id": 538647,
          "code": "31368008",
          "description": "Thiamin-responsive maple syrup urine disease (disorder)"
        },
        {
          "id": 538648,
          "code": "3140001",
          "description": "Citrullinemia, subacute type (disorder)"
        },
        {
          "id": 538649,
          "code": "32123005",
          "description": "Hooft's syndrome (disorder)"
        },
        {
          "id": 538650,
          "code": "324301000119107",
          "description": "Arthropathy due to metabolic disorder (disorder)"
        },
        {
          "id": 538651,
          "code": "32599008",
          "description": "Hemodialysis-associated amyloidosis (disorder)"
        },
        {
          "id": 538652,
          "code": "32612005",
          "description": "Disorder of purine metabolism (disorder)"
        },
        {
          "id": 538653,
          "code": "33116002",
          "description": "Hydroxykynureninuria (disorder)"
        },
        {
          "id": 538654,
          "code": "33316007",
          "description": "GM 2 gangliosidosis (disorder)"
        },
        {
          "id": 538655,
          "code": "33985005",
          "description": "Hyperornithinemia (disorder)"
        },
        {
          "id": 538656,
          "code": "340519003",
          "description": "Lysine intolerance (disorder)"
        },
        {
          "id": 538657,
          "code": "341536001",
          "description": "Periodic hyperlysinemia (disorder)"
        },
        {
          "id": 538658,
          "code": "342553006",
          "description": "Periodic hyperlysinemia with hyperammonemia (disorder)"
        },
        {
          "id": 538659,
          "code": "34420000",
          "description": "Storage disease (disorder)"
        },
        {
          "id": 538660,
          "code": "34528009",
          "description": "Familial hypertriglyceridemia (disorder)"
        },
        {
          "id": 538661,
          "code": "35759001",
          "description": "Ribose-phosphate pyrophosphokinase overactivity (disorder)"
        },
        {
          "id": 538662,
          "code": "35912001",
          "description": "Aminoaciduria (disorder)"
        },
        {
          "id": 538663,
          "code": "359692004",
          "description": "Intrinsic enamel discoloration of porphyria (disorder)"
        },
        {
          "id": 538664,
          "code": "360369003",
          "description": "Holocarboxylase synthase deficiency (disorder)"
        },
        {
          "id": 538665,
          "code": "360373000",
          "description": "Homocystinuria vitamin B12-responsive type III (disorder)"
        },
        {
          "id": 538666,
          "code": "360376008",
          "description": "Functional defects of methionine synthase (disorder)"
        },
        {
          "id": 538667,
          "code": "360378009",
          "description": "Homogentisate 1,2-dioxygenase deficiency (disorder)"
        },
        {
          "id": 538668,
          "code": "360410009",
          "description": "Hepatic tyrosine aminotransferase deficiency (disorder)"
        },
        {
          "id": 538669,
          "code": "360416003",
          "description": "Glutaryl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538670,
          "code": "360745000",
          "description": "Deficiency of long-chain fatty-acyl-coenzyme A hydrolase (disorder)"
        },
        {
          "id": 538671,
          "code": "360822002",
          "description": "Deficiency of sulfatase (disorder)"
        },
        {
          "id": 538672,
          "code": "360834005",
          "description": "Deficiency of arylsulfatase (disorder)"
        },
        {
          "id": 538673,
          "code": "360943000",
          "description": "Deficiency of carnosinase (disorder)"
        },
        {
          "id": 538674,
          "code": "361089004",
          "description": "Deficiency of alkylhalidase (disorder)"
        },
        {
          "id": 538675,
          "code": "361090008",
          "description": "Deficiency of phosphatase (disorder)"
        },
        {
          "id": 538676,
          "code": "361092000",
          "description": "Deficiency of sulfuric ester hydrolase (disorder)"
        },
        {
          "id": 538677,
          "code": "361093005",
          "description": "Deficiency of amine oxidase (disorder)"
        },
        {
          "id": 538678,
          "code": "361203007",
          "description": "Malonic aciduria (disorder)"
        },
        {
          "id": 538679,
          "code": "3642008",
          "description": "Disorder involving deficiency of steryl-sulfatase (EC 3.1.6.2) (disorder)"
        },
        {
          "id": 538680,
          "code": "36444000",
          "description": "Disorder of the urea cycle metabolism (disorder)"
        },
        {
          "id": 538681,
          "code": "366951000119109",
          "description": "Adolescent X-linked adrenoleukodystrophy (disorder)"
        },
        {
          "id": 538682,
          "code": "366961000119106",
          "description": "Albinism co-occurrent with hematologic disorder (disorder)"
        },
        {
          "id": 538683,
          "code": "367041000119108",
          "description": "Childhood cerebral X-linked adrenoleukodystrophy (disorder)"
        },
        {
          "id": 538684,
          "code": "367528006",
          "description": "Amyloidosis due to familial Mediterranean fever (disorder)"
        },
        {
          "id": 538685,
          "code": "367601000119103",
          "description": "Hereditary amyloidosis (disorder)"
        },
        {
          "id": 538686,
          "code": "367621000119107",
          "description": "Hyperoxaluria (disorder)"
        },
        {
          "id": 538687,
          "code": "367681000119106",
          "description": "Disorder of ketone metabolism (disorder)"
        },
        {
          "id": 538688,
          "code": "36891003",
          "description": "Hartnup disorder, renal/jejunal type (disorder)"
        },
        {
          "id": 538689,
          "code": "371628009",
          "description": "Porphyrinopathy (disorder)"
        },
        {
          "id": 538690,
          "code": "37183000",
          "description": "Cystinuria, type 1 (disorder)"
        },
        {
          "id": 538691,
          "code": "37200009",
          "description": "Disorder of tyrosine metabolism (disorder)"
        },
        {
          "id": 538693,
          "code": "37497004",
          "description": "Enteric hyperoxaluria (disorder)"
        },
        {
          "id": 538694,
          "code": "37548006",
          "description": "Hypopigmentation-immunodeficiency disease (disorder)"
        },
        {
          "id": 538695,
          "code": "37666005",
          "description": "Glycogen storage disease type X (disorder)"
        },
        {
          "id": 538696,
          "code": "37695001",
          "description": "Neonatal hypermethioninemia (disorder)"
        },
        {
          "id": 538697,
          "code": "37800003",
          "description": "Disorder of proline AND/OR hydroxyproline metabolism (disorder)"
        },
        {
          "id": 538698,
          "code": "378007",
          "description": "Morquio syndrome (disorder)"
        },
        {
          "id": 538699,
          "code": "37934003",
          "description": "Mitochondrial-lipid-glycogen storage myopathy (disorder)"
        },
        {
          "id": 538700,
          "code": "37982009",
          "description": "Hyperdicarboxylicaminoaciduria AND hyperprolinemia (disorder)"
        },
        {
          "id": 538701,
          "code": "38606009",
          "description": "Bullous cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538702,
          "code": "387815003",
          "description": "Deficiency of glycogen synthase a kinase (disorder)"
        },
        {
          "id": 538703,
          "code": "387817006",
          "description": "Deficiency of phosphorylase b kinase (disorder)"
        },
        {
          "id": 538704,
          "code": "39112005",
          "description": "Glutathione synthase deficiency with 5-oxoprolinuria (disorder)"
        },
        {
          "id": 538705,
          "code": "39390005",
          "description": "Niemann-Pick disease, type B (disorder)"
        },
        {
          "id": 538706,
          "code": "39452003",
          "description": "Fructose metabolism disorder (disorder)"
        },
        {
          "id": 538707,
          "code": "39502009",
          "description": "Isolated atrial amyloid (disorder)"
        },
        {
          "id": 538708,
          "code": "396338004",
          "description": "Metachromatic leucodystrophy (disorder)"
        },
        {
          "id": 538709,
          "code": "39734002",
          "description": "Renal glucosuria, type O (disorder)"
        },
        {
          "id": 538710,
          "code": "397915002",
          "description": "Fredrickson type IIa hyperlipoproteinemia (disorder)"
        },
        {
          "id": 538711,
          "code": "398036000",
          "description": "Familial hypercholesterolemia (disorder)"
        },
        {
          "id": 538712,
          "code": "398229007",
          "description": "Amyloid polyneuropathy type I (disorder)"
        },
        {
          "id": 538713,
          "code": "39838007",
          "description": "Ochronotic arthritis (disorder)"
        },
        {
          "id": 538714,
          "code": "398664009",
          "description": "Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder)"
        },
        {
          "id": 538715,
          "code": "398680004",
          "description": "Citrullinemia (disorder)"
        },
        {
          "id": 538716,
          "code": "399087009",
          "description": "Propionic acidemia, type I (disorder)"
        },
        {
          "id": 538717,
          "code": "399149003",
          "description": "Propionic acidemia, type II (disorder)"
        },
        {
          "id": 538718,
          "code": "39929009",
          "description": "Disorder of fatty acid metabolism (disorder)"
        },
        {
          "id": 538719,
          "code": "402453006",
          "description": "Amyloid light chain amyloidosis due to multiple myeloma (disorder)"
        },
        {
          "id": 538720,
          "code": "402454000",
          "description": "Primary systemic amyloidosis due to occult plasma cell dyscrasia (disorder)"
        },
        {
          "id": 538721,
          "code": "402455004",
          "description": "Macroglossia due to amyloidosis (disorder)"
        },
        {
          "id": 538722,
          "code": "402456003",
          "description": "Pseudoscleroderma due to amyloid light-chain amyloidosis (disorder)"
        },
        {
          "id": 538723,
          "code": "402457007",
          "description": "Secondary systemic amyloidosis affecting skin (AA fibril type) (disorder)"
        },
        {
          "id": 538724,
          "code": "402458002",
          "description": "Hemodialysis-associated secondary amyloidosis of skin (disorder)"
        },
        {
          "id": 538725,
          "code": "402459005",
          "description": "Heredofamilial systemic amyloidosis affecting skin (disorder)"
        },
        {
          "id": 538726,
          "code": "402460000",
          "description": "Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538727,
          "code": "402463003",
          "description": "Familial localized cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538728,
          "code": "402464009",
          "description": "Secondary localized cutaneous amyloidosis (disorder)"
        },
        {
          "id": 538729,
          "code": "402479002",
          "description": "Sporadic porphyria cutanea tarda (disorder)"
        },
        {
          "id": 538730,
          "code": "402481000",
          "description": "Porphyria-induced scleroderma (disorder)"
        },
        {
          "id": 538731,
          "code": "402719006",
          "description": "Systemic amyloidosis affecting skin (disorder)"
        },
        {
          "id": 538732,
          "code": "402720000",
          "description": "Amyloidosis limited to skin (disorder)"
        },
        {
          "id": 538733,
          "code": "402726006",
          "description": "Primary chylomicronemia (disorder)"
        },
        {
          "id": 538734,
          "code": "40278002",
          "description": "Hepatic fructokinase deficiency (disorder)"
        },
        {
          "id": 538735,
          "code": "402790006",
          "description": "Hereditary periodic fever (disorder)"
        },
        {
          "id": 538736,
          "code": "402790006",
          "description": "Hereditary periodic fever (disorder)"
        },
        {
          "id": 538737,
          "code": "403316009",
          "description": "Hypertrichosis in porphyria (disorder)"
        },
        {
          "id": 538738,
          "code": "403415009",
          "description": "Panniculitis due to alpha-1 anti-trypsin deficiency (disorder)"
        },
        {
          "id": 538739,
          "code": "403717002",
          "description": "Pseudoporphyria due to psoralen and long-wave ultraviolet radiation therapy (disorder)"
        },
        {
          "id": 538740,
          "code": "403732009",
          "description": "Hemodialysis-associated pseudoporphyria (disorder)"
        },
        {
          "id": 538741,
          "code": "403735006",
          "description": "Eosinophilia-myalgia syndrome from tryptophan (disorder)"
        },
        {
          "id": 538742,
          "code": "403737003",
          "description": "Porphyria caused by hexachlorobenzene (disorder)"
        },
        {
          "id": 538743,
          "code": "403738008",
          "description": "Porphyria caused by chlorinated phenol (disorder)"
        },
        {
          "id": 538744,
          "code": "403805009",
          "description": "Albinism-deafness syndrome of Tietz (disorder)"
        },
        {
          "id": 538745,
          "code": "403806005",
          "description": "Ziprkowski-Margolis syndrome (disorder)"
        },
        {
          "id": 538746,
          "code": "403827000",
          "description": "Familial lipoprotein lipase deficiency with type I phenotype (disorder)"
        },
        {
          "id": 538747,
          "code": "403828005",
          "description": "Familial lipoprotein lipase deficiency with type V phenotype (disorder)"
        },
        {
          "id": 538748,
          "code": "403829002",
          "description": "Familial hypercholesterolemia due to heterozygous low density lipoprotein receptor mutation (disorder)"
        },
        {
          "id": 538749,
          "code": "403830007",
          "description": "Familial hypercholesterolemia due to homozygous low density lipoprotein receptor mutation (disorder)"
        },
        {
          "id": 538750,
          "code": "403831006",
          "description": "Familial hypercholesterolemia due to genetic defect of apolipoprotein B (disorder)"
        },
        {
          "id": 538751,
          "code": "403832004",
          "description": "Inherited disorder of porphyrin metabolism (disorder)"
        },
        {
          "id": 538752,
          "code": "403833009",
          "description": "Tumor necrosis factor receptor-associated periodic fever syndrome (disorder)"
        },
        {
          "id": 538753,
          "code": "403834003",
          "description": "Hyper-immunoglobulin D periodic fever syndrome (disorder)"
        },
        {
          "id": 538754,
          "code": "40488004",
          "description": "Fanconi syndrome (disorder)"
        },
        {
          "id": 538755,
          "code": "405287008",
          "description": "Intermediate maple syrup urine disease (disorder)"
        },
        {
          "id": 538756,
          "code": "405288003",
          "description": "Intermittent maple syrup urine disease (disorder)"
        },
        {
          "id": 538757,
          "code": "40751003",
          "description": "Persistent hyperphenylalaninemia AND tyrosinemia (disorder)"
        },
        {
          "id": 538758,
          "code": "40802007",
          "description": "Metachromatic leukodystrophy, congenital type (disorder)"
        },
        {
          "id": 538759,
          "code": "408670001",
          "description": "Iatrogenic carnitine deficiency (disorder)"
        },
        {
          "id": 538760,
          "code": "40873003",
          "description": "Sulfite oxidase deficiency syndrome (disorder)"
        },
        {
          "id": 538761,
          "code": "40933005",
          "description": "Isolated corneal amyloidosis (disorder)"
        },
        {
          "id": 538762,
          "code": "40951006",
          "description": "Primary hyperoxaluria, type II (disorder)"
        },
        {
          "id": 538763,
          "code": "410050000",
          "description": "Clinical manifestation of carnosinase deficiency (disorder)"
        },
        {
          "id": 538764,
          "code": "410051001",
          "description": "Carnosinuria (disorder)"
        },
        {
          "id": 538765,
          "code": "410052008",
          "description": "Carnosinemia (disorder)"
        },
        {
          "id": 538766,
          "code": "410055005",
          "description": "Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder)"
        },
        {
          "id": 538767,
          "code": "410056006",
          "description": "Tyrosinemia type I (disorder)"
        },
        {
          "id": 538768,
          "code": "410059004",
          "description": "Hydroxymethylglutaric aciduria (disorder)"
        },
        {
          "id": 538769,
          "code": "41013004",
          "description": "Argininosuccinate lyase deficiency (disorder)"
        },
        {
          "id": 538770,
          "code": "41142009",
          "description": "Globoid cell leukodystrophy, late-onset (disorder)"
        },
        {
          "id": 538771,
          "code": "41305006",
          "description": "Secondary oxalosis (disorder)"
        },
        {
          "id": 538772,
          "code": "41326006",
          "description": "Classical galactosemia, heterozygous type (disorder)"
        },
        {
          "id": 538773,
          "code": "413356003",
          "description": "4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)"
        },
        {
          "id": 538774,
          "code": "41527003",
          "description": "Glycogen storage disease type VIII (disorder)"
        },
        {
          "id": 538775,
          "code": "41572006",
          "description": "Mucopolysaccharidosis III-A (disorder)"
        },
        {
          "id": 538776,
          "code": "415764005",
          "description": "Tyrosinemia type III (disorder)"
        },
        {
          "id": 538777,
          "code": "41590007",
          "description": "Familial amyloid polyneuropathy, Jewish type (disorder)"
        },
        {
          "id": 538778,
          "code": "417939004",
          "description": "Amyloid corneal degeneration (disorder)"
        },
        {
          "id": 538779,
          "code": "41797007",
          "description": "5,10-Methylenetetrahydrofolate reductase deficiency (disorder)"
        },
        {
          "id": 538780,
          "code": "418470004",
          "description": "Porphyria (disorder)"
        },
        {
          "id": 538781,
          "code": "419097006",
          "description": "Danon disease (disorder)"
        },
        {
          "id": 538782,
          "code": "419503008",
          "description": "Hyperhomocysteinemia (disorder)"
        },
        {
          "id": 538783,
          "code": "42012007",
          "description": "Neuronal ceroid lipofuscinosis (disorder)"
        },
        {
          "id": 538784,
          "code": "420146005",
          "description": "Cerebral degeneration associated with generalized lipidosis (disorder)"
        },
        {
          "id": 538785,
          "code": "421784001",
          "description": "Carnitine deficiency (disorder)"
        },
        {
          "id": 538786,
          "code": "42295001",
          "description": "Familial amyloid polyneuropathy (disorder)"
        },
        {
          "id": 538787,
          "code": "423148005",
          "description": "Disorder due to N-acetyltransferase enzyme variant (disorder)"
        },
        {
          "id": 538788,
          "code": "423350005",
          "description": "Fast acetylator due to N-acetyltransferase enzyme variant (disorder)"
        },
        {
          "id": 538789,
          "code": "423580001",
          "description": "Cytochrome p450 CYP1A2 enzyme deficiency (disorder)"
        },
        {
          "id": 538790,
          "code": "42393006",
          "description": "Methylmalonic acidemia (disorder)"
        },
        {
          "id": 538791,
          "code": "424224001",
          "description": "Cytochrome p450 enzyme deficiency (disorder)"
        },
        {
          "id": 538792,
          "code": "424846003",
          "description": "Cytochrome p450 CYP3A enzyme deficiency (disorder)"
        },
        {
          "id": 538793,
          "code": "424925008",
          "description": "Cytochrome p450 CYP2E1 enzyme deficiency (disorder)"
        },
        {
          "id": 538794,
          "code": "42496002",
          "description": "Cystinuria, type 3 (disorder)"
        },
        {
          "id": 538795,
          "code": "425079005",
          "description": "Slow acetylator due to N-acetyltransferase enzyme variant (disorder)"
        },
        {
          "id": 538796,
          "code": "425522009",
          "description": "Hyperammonemic encephalopathy (disorder)"
        },
        {
          "id": 538797,
          "code": "425879009",
          "description": "Amyloid A nephropathy (disorder)"
        },
        {
          "id": 538798,
          "code": "426387005",
          "description": "Long-chain fatty acid transport deficiency (disorder)"
        },
        {
          "id": 538799,
          "code": "426598005",
          "description": "Amyloid light-chain nephropathy (disorder)"
        },
        {
          "id": 538800,
          "code": "426655001",
          "description": "Disorder of aromatic amino acid metabolism (disorder)"
        },
        {
          "id": 538801,
          "code": "42785009",
          "description": "Hypothyroidism due to cystinosis (disorder)"
        },
        {
          "id": 538802,
          "code": "42930003",
          "description": "Inborn error of amino acid metabolism (disorder)"
        },
        {
          "id": 538803,
          "code": "429735007",
          "description": "Citrin deficiency (disorder)"
        },
        {
          "id": 538804,
          "code": "430079001",
          "description": "Cryopyrin associated periodic syndrome (disorder)"
        },
        {
          "id": 538805,
          "code": "43123004",
          "description": "Hypermethioninemia (disorder)"
        },
        {
          "id": 538925,
          "code": "65524005",
          "description": "Mannosidosis (disorder)"
        },
        {
          "id": 538806,
          "code": "43532007",
          "description": "Hereditary oculoleptomeningeal amyloid angiopathy (disorder)"
        },
        {
          "id": 538807,
          "code": "43599001",
          "description": "Drug-induced porphyria (disorder)"
        },
        {
          "id": 538808,
          "code": "439006004",
          "description": "Hereditary hyperhomocysteinemia (disorder)"
        },
        {
          "id": 538809,
          "code": "43916004",
          "description": "Mucopolysaccharidosis type VII (disorder)"
        },
        {
          "id": 538810,
          "code": "4409006",
          "description": "Adenosylcobalamin and methylcobalamin synthesis defect (disorder)"
        },
        {
          "id": 538811,
          "code": "44176004",
          "description": "Disorder of histidine metabolism (disorder)"
        },
        {
          "id": 538812,
          "code": "44359008",
          "description": "Metachromatic leukodystrophy, juvenile type (disorder)"
        },
        {
          "id": 538813,
          "code": "443894002",
          "description": "Alpha ketoadipic aciduria (disorder)"
        },
        {
          "id": 538814,
          "code": "444707001",
          "description": "Glycogen storage disease type Ia (disorder)"
        },
        {
          "id": 538815,
          "code": "444755001",
          "description": "Disorder of isoleucine metabolism (disorder)"
        },
        {
          "id": 538816,
          "code": "444756000",
          "description": "Disorder of valine metabolism (disorder)"
        },
        {
          "id": 538817,
          "code": "444838008",
          "description": "Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (disorder)"
        },
        {
          "id": 538818,
          "code": "444944006",
          "description": "Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder)"
        },
        {
          "id": 538819,
          "code": "445010006",
          "description": "Low density lipoprotein receptor mutation (disorder)"
        },
        {
          "id": 538820,
          "code": "445274004",
          "description": "Deficiency of isobutyryl-coenzyme A dehydrogenase (disorder)"
        },
        {
          "id": 538821,
          "code": "445275003",
          "description": "Deficiency of succinate-coenzyme A ligase (disorder)"
        },
        {
          "id": 538822,
          "code": "445571008",
          "description": "Isobutyrylglycinuria (disorder)"
        },
        {
          "id": 538823,
          "code": "445596006",
          "description": "2-methylbutyrylglycinuria (disorder)"
        },
        {
          "id": 538824,
          "code": "44574006",
          "description": "Porphyruria (disorder)"
        },
        {
          "id": 538825,
          "code": "4463009",
          "description": "Familial amyloid polyneuropathy, type II (disorder)"
        },
        {
          "id": 538826,
          "code": "44673006",
          "description": "Glucoaminophosphaturia syndrome (disorder)"
        },
        {
          "id": 538827,
          "code": "44779003",
          "description": "Disorder of amino acid metabolism (disorder)"
        },
        {
          "id": 538828,
          "code": "448054001",
          "description": "Adult onset autosomal dominant leukodystrophy (disorder)"
        },
        {
          "id": 538829,
          "code": "448834003",
          "description": "High density lipoprotein deficiency (disorder)"
        },
        {
          "id": 538830,
          "code": "4519003",
          "description": "Hypouricemia (disorder)"
        },
        {
          "id": 538831,
          "code": "45639009",
          "description": "Hereditary cerebral amyloid angiopathy, Icelandic type (disorder)"
        },
        {
          "id": 538832,
          "code": "45812003",
          "description": "Familial methionine malabsorption (disorder)"
        },
        {
          "id": 538833,
          "code": "459063003",
          "description": "Congenital disorder of glycosylation type Ia (disorder)"
        },
        {
          "id": 538834,
          "code": "4645000",
          "description": "Senile brain amyloidosis (disorder)"
        },
        {
          "id": 538835,
          "code": "46556004",
          "description": "Aminoacidemia (disorder)"
        },
        {
          "id": 538836,
          "code": "46683007",
          "description": "Pyruvate dehydrogenase complex deficiency (disorder)"
        },
        {
          "id": 538837,
          "code": "47632004",
          "description": "Secondary porphyria (disorder)"
        },
        {
          "id": 538838,
          "code": "47641009",
          "description": "Orotic aciduria (disorder)"
        },
        {
          "id": 538839,
          "code": "47683004",
          "description": "Metachromatic leukodystrophy, late infantile type (disorder)"
        },
        {
          "id": 538840,
          "code": "47719001",
          "description": "Hypervalinemia (disorder)"
        },
        {
          "id": 538841,
          "code": "48713002",
          "description": "Amyloid nephropathy (disorder)"
        },
        {
          "id": 538842,
          "code": "4887000",
          "description": "Hypertyrosinemia, Richner-Hanhart type (disorder)"
        },
        {
          "id": 538843,
          "code": "4920001",
          "description": "Acetyl-CoA: carboxylase deficiency (disorder)"
        },
        {
          "id": 538844,
          "code": "49562005",
          "description": "Adult chronic GM 2 gangliosidosis (disorder)"
        },
        {
          "id": 538845,
          "code": "49748000",
          "description": "Succinate-semialdehyde dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538846,
          "code": "50056009",
          "description": "Lysinuric protein intolerance, type 1 (disorder)"
        },
        {
          "id": 538847,
          "code": "50967008",
          "description": "Gangliosidosis (disorder)"
        },
        {
          "id": 538848,
          "code": "51022005",
          "description": "Erythropoietic protoporphyria (disorder)"
        },
        {
          "id": 538849,
          "code": "5134006",
          "description": "Familial amyloid polyneuropathy, type VI (disorder)"
        },
        {
          "id": 538850,
          "code": "5181007",
          "description": "Disorder of tryptophan metabolism (disorder)"
        },
        {
          "id": 538851,
          "code": "52165006",
          "description": "Niemann-Pick disease, type A (disorder)"
        },
        {
          "id": 538852,
          "code": "52270006",
          "description": "Intermittent branched-chain ketonuria (disorder)"
        },
        {
          "id": 538853,
          "code": "52311001",
          "description": "Homocystinemia (disorder)"
        },
        {
          "id": 538854,
          "code": "52452006",
          "description": "Fumarylacetoacetase deficiency, chronic type (disorder)"
        },
        {
          "id": 538855,
          "code": "52677002",
          "description": "Deficiency of N-acetylgalactosamine-4-sulfatase (disorder)"
        },
        {
          "id": 538856,
          "code": "53210006",
          "description": "Inborn error of pyruvate metabolism (disorder)"
        },
        {
          "id": 538857,
          "code": "54064006",
          "description": "Classical maple syrup urine disease (disorder)"
        },
        {
          "id": 538858,
          "code": "54627004",
          "description": "Hereditary xanthinuria (disorder)"
        },
        {
          "id": 538859,
          "code": "54898003",
          "description": "Multiple sulfatase deficiency (disorder)"
        },
        {
          "id": 538860,
          "code": "54954004",
          "description": "Aspartylglucosaminuria (disorder)"
        },
        {
          "id": 538861,
          "code": "55056006",
          "description": "Hepatic porphyria (disorder)"
        },
        {
          "id": 538862,
          "code": "55341000119107",
          "description": "Carnitine deficiency due to inborn error of metabolism (disorder)"
        },
        {
          "id": 538863,
          "code": "55731008",
          "description": "Arylsulfatase deficiency without metachromatic leukodystrophy (disorder)"
        },
        {
          "id": 538864,
          "code": "55912009",
          "description": "Glycogen storage disease, type V (disorder)"
        },
        {
          "id": 538865,
          "code": "56453003",
          "description": "Hereditary cerebral amyloid angiopathy, Dutch type (disorder)"
        },
        {
          "id": 538866,
          "code": "56595005",
          "description": "Hypertyrosinemia (disorder)"
        },
        {
          "id": 538867,
          "code": "5667009",
          "description": "Hunter's syndrome, mild form (disorder)"
        },
        {
          "id": 538868,
          "code": "56871000",
          "description": "Localized amyloidosis (disorder)"
        },
        {
          "id": 538869,
          "code": "57119000",
          "description": "Hyperammonemia, type III (disorder)"
        },
        {
          "id": 538870,
          "code": "57218003",
          "description": "Cholesterol ester storage disease (disorder)"
        },
        {
          "id": 538871,
          "code": "57414003",
          "description": "Tyrosinosis (disorder)"
        },
        {
          "id": 538872,
          "code": "57835009",
          "description": "Hepatic methionine adenosyltransferase deficiency (disorder)"
        },
        {
          "id": 538873,
          "code": "58258004",
          "description": "Infantile neuronal ceroid lipofuscinosis (disorder)"
        },
        {
          "id": 538874,
          "code": "58263000",
          "description": "Maroteaux-Lamy syndrome, severe form (disorder)"
        },
        {
          "id": 538875,
          "code": "58275005",
          "description": "Variegate porphyria (disorder)"
        },
        {
          "id": 538876,
          "code": "58459009",
          "description": "Sphingomyelin/cholesterol lipidosis (disorder)"
        },
        {
          "id": 538877,
          "code": "58558003",
          "description": "Hyperlysinemia (disorder)"
        },
        {
          "id": 538878,
          "code": "58629009",
          "description": "Dilated cardiomyopathy secondary to amyloidosis (disorder)"
        },
        {
          "id": 538879,
          "code": "58911001",
          "description": "Dilated cardiomyopathy secondary to glycogen storage disease (disorder)"
        },
        {
          "id": 538880,
          "code": "59017008",
          "description": "Conjunctival amyloidosis (disorder)"
        },
        {
          "id": 538881,
          "code": "59178007",
          "description": "Menkes kinky-hair syndrome (disorder)"
        },
        {
          "id": 538882,
          "code": "59229005",
          "description": "Familial porphyria cutanea tarda (disorder)"
        },
        {
          "id": 538883,
          "code": "59531002",
          "description": "Tryptophan malabsorption syndrome (disorder)"
        },
        {
          "id": 538884,
          "code": "5963005",
          "description": "Subacute neuronopathic Gaucher's disease (disorder)"
        },
        {
          "id": 538885,
          "code": "59636002",
          "description": "Pelizaeus-Merzbacher disease, connatal variant (disorder)"
        },
        {
          "id": 538886,
          "code": "59655002",
          "description": "Hyperprolinemia (disorder)"
        },
        {
          "id": 538887,
          "code": "59761008",
          "description": "Glutamate formiminotransferase deficiency (disorder)"
        },
        {
          "id": 538888,
          "code": "59990008",
          "description": "Mucopolysaccharidosis III-B (disorder)"
        },
        {
          "id": 538889,
          "code": "60514000",
          "description": "Dilated cardiomyopathy secondary to familial storage disease (disorder)"
        },
        {
          "id": 538890,
          "code": "60733007",
          "description": "Hypothyroidism due to amyloidosis (disorder)"
        },
        {
          "id": 538891,
          "code": "6075009",
          "description": "Glycogen storage disease, hepatic form (disorder)"
        },
        {
          "id": 538892,
          "code": "60952007",
          "description": "Urocanate hydratase deficiency (disorder)"
        },
        {
          "id": 538893,
          "code": "61071003",
          "description": "Proline dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538894,
          "code": "61164006",
          "description": "Erythropoietic coproporphyria (disorder)"
        },
        {
          "id": 538895,
          "code": "61172008",
          "description": "Infantile fucosidosis (disorder)"
        },
        {
          "id": 538896,
          "code": "61336008",
          "description": "Hypocholesterolemia (disorder)"
        },
        {
          "id": 538897,
          "code": "61451000",
          "description": "Classical galactosemia, homozygous Negro-type (disorder)"
        },
        {
          "id": 538898,
          "code": "61598006",
          "description": "Glycogenosis with glucoaminophosphaturia (disorder)"
        },
        {
          "id": 538899,
          "code": "61663001",
          "description": "Juvenile neuronal ceroid lipofuscinosis (disorder)"
        },
        {
          "id": 538900,
          "code": "61764000",
          "description": "Homocarnosinase deficiency (disorder)"
        },
        {
          "id": 538901,
          "code": "61772003",
          "description": "Muscle phosphoglycerate mutase deficiency (disorder)"
        },
        {
          "id": 538902,
          "code": "61860000",
          "description": "Porphyria cutanea tarda (disorder)"
        },
        {
          "id": 538903,
          "code": "62144003",
          "description": "Punctate oculocutaneous albinoidism (disorder)"
        },
        {
          "id": 538904,
          "code": "62151007",
          "description": "Leucine-induced hypoglycemia (disorder)"
        },
        {
          "id": 538905,
          "code": "62201009",
          "description": "Chronic non-neuropathic Gaucher's disease (disorder)"
        },
        {
          "id": 538906,
          "code": "62311004",
          "description": "Mannosidosis, type I (disorder)"
        },
        {
          "id": 538907,
          "code": "62332007",
          "description": "Infantile nephropathic cystinosis (disorder)"
        },
        {
          "id": 538908,
          "code": "62440002",
          "description": "Infantile GM 2 gangliosidosis (disorder)"
        },
        {
          "id": 538909,
          "code": "63329001",
          "description": "Glycine dehydrogenase (decarboxylating) deficiency (disorder)"
        },
        {
          "id": 538910,
          "code": "63450009",
          "description": "Rufous albinism (disorder)"
        },
        {
          "id": 538911,
          "code": "63844009",
          "description": "Oculocutaneous albinism (disorder)"
        },
        {
          "id": 538912,
          "code": "64081000",
          "description": "Porphobilinogen synthase deficiency (disorder)"
        },
        {
          "id": 538913,
          "code": "64235006",
          "description": "Ethanolaminosis (disorder)"
        },
        {
          "id": 538914,
          "code": "64615000",
          "description": "Restrictive cardiomyopathy secondary to glycogen storage disease (disorder)"
        },
        {
          "id": 538915,
          "code": "64716005",
          "description": "Fucosidosis (disorder)"
        },
        {
          "id": 538916,
          "code": "6479008",
          "description": "Partial albinism (disorder)"
        },
        {
          "id": 538917,
          "code": "6483008",
          "description": "Tyrosinase-negative oculocutaneous albinism (disorder)"
        },
        {
          "id": 538918,
          "code": "64852002",
          "description": "Sarcosine dehydrogenase deficiency (disorder)"
        },
        {
          "id": 538919,
          "code": "64855000",
          "description": "Pelizaeus-Merzbacher disease (disorder)"
        },
        {
          "id": 538920,
          "code": "65277001",
          "description": "Imidazole aminoaciduria (disorder)"
        },
        {
          "id": 538921,
          "code": "65327002",
          "description": "Mucopolysaccharidosis type I-H (disorder)"
        },
        {
          "id": 538922,
          "code": "65389002",
          "description": "Adrenoleukodystrophy (disorder)"
        },
        {
          "id": 538923,
          "code": "65419005",
          "description": "Sitosterolemia with xanthomatosis (disorder)"
        },
        {
          "id": 538924,
          "code": "65520001",
          "description": "Primary hyperoxaluria, type I (disorder)"
        },
        {
          "id": 538926,
          "code": "65764006",
          "description": "Pseudo-Hurler polydystrophy (disorder)"
        },
        {
          "id": 538927,
          "code": "65791008",
          "description": "Adenine phosphoribosyltransferase deficiency, Japanese type (disorder)"
        },
        {
          "id": 538928,
          "code": "66002008",
          "description": "Persistent hyperlysinemia (disorder)"
        },
        {
          "id": 538929,
          "code": "66451004",
          "description": "Familial visceral amyloidosis, Ostertag type (disorder)"
        },
        {
          "id": 538930,
          "code": "66521008",
          "description": "Deficiency of cerebroside-sulfatase (disorder)"
        },
        {
          "id": 538931,
          "code": "66751000",
          "description": "Niemann-Pick disease, type C (disorder)"
        },
        {
          "id": 538932,
          "code": "66937008",
          "description": "Glycogen storage disease, type III (disorder)"
        },
        {
          "id": 538933,
          "code": "67312003",
          "description": "Erythropoietic porphyria (disorder)"
        },
        {
          "id": 538934,
          "code": "67845009",
          "description": "Aminomethyltransferase deficiency (disorder)"
        },
        {
          "id": 538935,
          "code": "67854007",
          "description": "Maroteaux-Lamy syndrome, mild form (disorder)"
        },
        {
          "id": 538936,
          "code": "67855008",
          "description": "Niemann-Pick disease, type C, subacute form (disorder)"
        },
        {
          "id": 538937,
          "code": "68390005",
          "description": "Sphingolipid activator protein 1 deficiency (disorder)"
        },
        {
          "id": 538938,
          "code": "69078007",
          "description": "Age-related amyloidosis (disorder)"
        },
        {
          "id": 538939,
          "code": "69080001",
          "description": "Propionic acidemia (disorder)"
        },
        {
          "id": 538940,
          "code": "69463008",
          "description": "Maroteaux-Lamy syndrome (disorder)"
        },
        {
          "id": 538941,
          "code": "69525003",
          "description": "Hereditary orotic aciduria, type 1 (disorder)"
        },
        {
          "id": 538942,
          "code": "69614003",
          "description": "Adenosylcobalamin synthesis defect (disorder)"
        },
        {
          "id": 538943,
          "code": "69718008",
          "description": "Oxalate nephropathy (disorder)"
        },
        {
          "id": 538944,
          "code": "698290008",
          "description": "X-linked creatine deficiency (disorder)"
        },
        {
          "id": 538945,
          "code": "698624003",
          "description": "Dementia associated with cerebral lipidosis (disorder)"
        },
        {
          "id": 538946,
          "code": "698870008",
          "description": "2-hydroxyglutaric aciduria (disorder)"
        },
        {
          "id": 538947,
          "code": "698953004",
          "description": "Inherited aminoaciduria (disorder)"
        },
        {
          "id": 538948,
          "code": "699315005",
          "description": "Neutral lipid storage disease with myopathy (disorder)"
        },
        {
          "id": 538949,
          "code": "700458001",
          "description": "Pulmonary edema due to hypoproteinemia (disorder)"
        },
        {
          "id": 538950,
          "code": "702347001",
          "description": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder)"
        },
        {
          "id": 538951,
          "code": "702365002",
          "description": "Combined malonic and methylmalonic aciduria (disorder)"
        },
        {
          "id": 538952,
          "code": "702440000",
          "description": "Cerebral creatine deficiency syndrome 3 (disorder)"
        },
        {
          "id": 538953,
          "code": "703313007",
          "description": "Cerebral amyloid angiopathy associated with systemic amyloidosis (disorder)"
        },
        {
          "id": 538954,
          "code": "703332001",
          "description": "Pericarditis due to metabolic disease (disorder)"
        },
        {
          "id": 538955,
          "code": "703522009",
          "description": "Biotin-thiamine-responsive basal ganglia disease (disorder)"
        },
        {
          "id": 538956,
          "code": "703527003",
          "description": "TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder)"
        },
        {
          "id": 538957,
          "code": "703536004",
          "description": "Megalencephalic leukoencephalopathy with subcortical cysts (disorder)"
        },
        {
          "id": 538958,
          "code": "703537008",
          "description": "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (disorder)"
        },
        {
          "id": 538959,
          "code": "7046009",
          "description": "Hyperleucine-isoleucinemia (disorder)"
        },
        {
          "id": 538960,
          "code": "70528007",
          "description": "Mucolipidosis (disorder)"
        },
        {
          "id": 538961,
          "code": "707090004",
          "description": "Spondyloarthropathy due to hemodialysis-associated amyloidosis (disorder)"
        },
        {
          "id": 538962,
          "code": "70737009",
          "description": "Mucopolysaccharidosis type II (disorder)"
        },
        {
          "id": 538963,
          "code": "707434003",
          "description": "Pulmonary fibrosis due to Hermansky-Pudlak syndrome (disorder)"
        },
        {
          "id": 538964,
          "code": "709282004",
          "description": "Deficiency of aminoacylase 1 (disorder)"
        },
        {
          "id": 538965,
          "code": "709412006",
          "description": "Congenital disorder of glycosylation type 1c (disorder)"
        },
        {
          "id": 538966,
          "code": "709414007",
          "description": "Deficiency of mitochondrial complex III (disorder)"
        },
        {
          "id": 538967,
          "code": "709465004",
          "description": "Periodontitis co-occurrent with Chédiak-Higashi syndrome (disorder)"
        },
        {
          "id": 538968,
          "code": "709561006",
          "description": "Periodontitis co-occurrent with glycogen storage disease (disorder)"
        },
        {
          "id": 538969,
          "code": "710349003",
          "description": "Peripheral neuropathy of upper limb due to metabolic disorder (disorder)"
        },
        {
          "id": 538970,
          "code": "710360007",
          "description": "Peripheral neuropathy due to metabolic disorder (disorder)"
        },
        {
          "id": 538971,
          "code": "711155008",
          "description": "ALG12-congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 538972,
          "code": "711409002",
          "description": "3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)"
        },
        {
          "id": 538973,
          "code": "711412004",
          "description": "3-methylglutaconic aciduria type 5 (disorder)"
        },
        {
          "id": 538974,
          "code": "71253000",
          "description": "Tay-Sachs disease, variant AB (disorder)"
        },
        {
          "id": 538975,
          "code": "712637001",
          "description": "Ribonucleic acid polymerase III-related leukodystrophy (disorder)"
        },
        {
          "id": 538976,
          "code": "712640001",
          "description": "Deficiency of phosphomannomutase 2 (disorder)"
        },
        {
          "id": 538977,
          "code": "712641002",
          "description": "Deficiency of glucosyltransferase 1 (disorder)"
        },
        {
          "id": 538978,
          "code": "713401006",
          "description": "Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria (disorder)"
        },
        {
          "id": 538979,
          "code": "715632003",
          "description": "Oculocutaneous albinism type 4 (disorder)"
        },
        {
          "id": 538980,
          "code": "715655000",
          "description": "Transthyretin related familial amyloid cardiomyopathy (disorder)"
        },
        {
          "id": 538981,
          "code": "715794009",
          "description": "Progressive encephalopathy with severe infantile anorexia (disorder)"
        },
        {
          "id": 538982,
          "code": "715923003",
          "description": "Lysosomal acid lipase deficiency (disorder)"
        },
        {
          "id": 538983,
          "code": "716704007",
          "description": "Primary localized cutaneous nodular amyloidosis (disorder)"
        },
        {
          "id": 538984,
          "code": "716863007",
          "description": "Citrullinemia type II (disorder)"
        },
        {
          "id": 538985,
          "code": "71690006",
          "description": "Galactosuria (disorder)"
        },
        {
          "id": 538986,
          "code": "71702000",
          "description": "Maple syrup urine disease, multiple dehydrogenase form (disorder)"
        },
        {
          "id": 538987,
          "code": "717042001",
          "description": "Pelizaeus Merzbacher like disease (disorder)"
        },
        {
          "id": 538988,
          "code": "717047007",
          "description": "Bile acid coenzyme A ligase deficiency and defective amidation (disorder)"
        },
        {
          "id": 538989,
          "code": "717052002",
          "description": "Maternally inherited Leigh syndrome (disorder)"
        },
        {
          "id": 538990,
          "code": "717155003",
          "description": "Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)"
        },
        {
          "id": 538991,
          "code": "717181004",
          "description": "Hyperprolinemia type 2 (disorder)"
        },
        {
          "id": 538992,
          "code": "717185008",
          "description": "Deficiency of leukotriene C4 synthase (disorder)"
        },
        {
          "id": 538993,
          "code": "717231003",
          "description": "Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder)"
        },
        {
          "id": 538994,
          "code": "71751002",
          "description": "Lysinuric protein intolerance, type 2 (disorder)"
        },
        {
          "id": 538995,
          "code": "717773005",
          "description": "Component of oligomeric golgi complex 7 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 538996,
          "code": "717774004",
          "description": "Component of oligomeric golgi complex 8 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 538997,
          "code": "717821004",
          "description": "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder)"
        },
        {
          "id": 538998,
          "code": "718105008",
          "description": "Lichen amyloidosis (disorder)"
        },
        {
          "id": 538999,
          "code": "718106009",
          "description": "Hyperinsulinism and hyperammonemia syndrome (disorder)"
        },
        {
          "id": 539000,
          "code": "718558008",
          "description": "Mevalonic aciduria (disorder)"
        },
        {
          "id": 539001,
          "code": "718603002",
          "description": "Deficiency of phosphoserine aminotransferase (disorder)"
        },
        {
          "id": 539002,
          "code": "718712005",
          "description": "Carbohydrate deficient glycoprotein syndrome type 1m (disorder)"
        },
        {
          "id": 539003,
          "code": "718721006",
          "description": "Congenital analbuminemia (disorder)"
        },
        {
          "id": 539004,
          "code": "718750004",
          "description": "Component of oligomeric golgi complex 1 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539005,
          "code": "718751000",
          "description": "Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539006,
          "code": "719267003",
          "description": "Progressive cavitating leukoencephalopathy (disorder)"
        },
        {
          "id": 539007,
          "code": "719377004",
          "description": "Microcephalus with albinism and digital anomaly syndrome (disorder)"
        },
        {
          "id": 539008,
          "code": "719403003",
          "description": "Leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts (disorder)"
        },
        {
          "id": 539009,
          "code": "719449007",
          "description": "Deficiency of dimethylglycine dehydrogenase (disorder)"
        },
        {
          "id": 539010,
          "code": "720520009",
          "description": "Attenuated Chédiak-Higashi syndrome (disorder)"
        },
        {
          "id": 539011,
          "code": "720825005",
          "description": "Cystic leukoencephalopathy without megalencephaly (disorder)"
        },
        {
          "id": 539012,
          "code": "720827002",
          "description": "Multiple mitochondrial dysfunctions syndrome (disorder)"
        },
        {
          "id": 539013,
          "code": "720830009",
          "description": "Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder)"
        },
        {
          "id": 539014,
          "code": "720864008",
          "description": "Encephalopathy due to prosaposin deficiency (disorder)"
        },
        {
          "id": 539015,
          "code": "720941007",
          "description": "Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539016,
          "code": "720951008",
          "description": "Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (disorder)"
        },
        {
          "id": 539017,
          "code": "720976009",
          "description": "Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539018,
          "code": "720977000",
          "description": "Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539019,
          "code": "720978005",
          "description": "Asparagine-linked glycosylation 9 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539020,
          "code": "721099001",
          "description": "Adult polyglucosan body disease (disorder)"
        },
        {
          "id": 539021,
          "code": "721100009",
          "description": "Component of oligomeric golgi complex 5 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539022,
          "code": "721187005",
          "description": "Methylcobalamin deficiency type cbl G (disorder)"
        },
        {
          "id": 539023,
          "code": "721225009",
          "description": "Homocystinuria without methylmalonic aciduria (disorder)"
        },
        {
          "id": 539024,
          "code": "721236002",
          "description": "Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539025,
          "code": "721661009",
          "description": "Amyloidosis of small intestine (disorder)"
        },
        {
          "id": 539026,
          "code": "722054007",
          "description": "Ocular albinism with late-onset sensorineural deafness (disorder)"
        },
        {
          "id": 539027,
          "code": "722057000",
          "description": "Oculocutaneous albinism type 5 (disorder)"
        },
        {
          "id": 539028,
          "code": "722058005",
          "description": "Oculocutaneous albinism type 6 (disorder)"
        },
        {
          "id": 539029,
          "code": "722059002",
          "description": "Oculocutaneous albinism type 7 (disorder)"
        },
        {
          "id": 539030,
          "code": "722064003",
          "description": "Odontoleukodystrophy (disorder)"
        },
        {
          "id": 539031,
          "code": "722292000",
          "description": "Autosomal dominant beta2-microglobulinic amyloidosis (disorder)"
        },
        {
          "id": 539032,
          "code": "722302009",
          "description": "Glycogen storage disease type II infantile onset (disorder)"
        },
        {
          "id": 539033,
          "code": "722343009",
          "description": "Glycogen storage disease type II late onset (disorder)"
        },
        {
          "id": 539034,
          "code": "722457005",
          "description": "Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)"
        },
        {
          "id": 539035,
          "code": "722488009",
          "description": "Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)"
        },
        {
          "id": 539036,
          "code": "72262000",
          "description": "Inborn error of glutathione metabolism (disorder)"
        },
        {
          "id": 539037,
          "code": "722762005",
          "description": "Ganglioside GM3 synthase deficiency (disorder)"
        },
        {
          "id": 539038,
          "code": "722948009",
          "description": "Glomerular disorder due to non-neuropathic heredofamilial amyloidosis (disorder)"
        },
        {
          "id": 539039,
          "code": "722969006",
          "description": "Tremor due to metabolic disorder (disorder)"
        },
        {
          "id": 539040,
          "code": "722979008",
          "description": "Dementia due to metabolic abnormality (disorder)"
        },
        {
          "id": 539041,
          "code": "722984002",
          "description": "Myelopathy due to metabolic disorder (disorder)"
        },
        {
          "id": 539042,
          "code": "723307008",
          "description": "Ethylmalonic encephalopathy (disorder)"
        },
        {
          "id": 539043,
          "code": "723454008",
          "description": "Phosphoribosylpyrophosphate synthetase superactivity (disorder)"
        },
        {
          "id": 539044,
          "code": "723552005",
          "description": "Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539045,
          "code": "723557004",
          "description": "Thiamine-responsive encephalopathy (disorder)"
        },
        {
          "id": 539046,
          "code": "723579009",
          "description": "Tangier disease (disorder)"
        },
        {
          "id": 539047,
          "code": "723624008",
          "description": "Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539048,
          "code": "723994004",
          "description": "Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder)"
        },
        {
          "id": 539049,
          "code": "724096007",
          "description": "Congenital disorder of glycosylation type 1f (disorder)"
        },
        {
          "id": 539050,
          "code": "724142005",
          "description": "Carbohydrate deficient glycoprotein syndrome type 2a (disorder)"
        },
        {
          "id": 539051,
          "code": "724146008",
          "description": "Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)"
        },
        {
          "id": 539052,
          "code": "724279004",
          "description": "Combined oxidative phosphorylation defect type 5 (disorder)"
        },
        {
          "id": 539053,
          "code": "724283004",
          "description": "Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)"
        },
        {
          "id": 539054,
          "code": "724344004",
          "description": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (disorder)"
        },
        {
          "id": 539055,
          "code": "724357007",
          "description": "Hereditary cerebral hemorrhage with amyloidosis (disorder)"
        },
        {
          "id": 539056,
          "code": "724575009",
          "description": "Coenzyme Q10 deficiency (disorder)"
        },
        {
          "id": 539057,
          "code": "724638006",
          "description": "Splenomegaly co-occurrent and due to storage disease (disorder)"
        },
        {
          "id": 539058,
          "code": "724766009",
          "description": "Chorea co-occurrent and due to Wilson disease (disorder)"
        },
        {
          "id": 539059,
          "code": "72488000",
          "description": "Niemann-Pick disease, type C, chronic form (disorder)"
        },
        {
          "id": 539060,
          "code": "725026008",
          "description": "Hepatic glycogen synthase deficiency (disorder)"
        },
        {
          "id": 539061,
          "code": "725027004",
          "description": "Muscle and heart glycogen synthase deficiency (disorder)"
        },
        {
          "id": 539062,
          "code": "725028009",
          "description": "Mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539063,
          "code": "725044000",
          "description": "Carbohydrate deficient glycoprotein syndrome type 1o (disorder)"
        },
        {
          "id": 539064,
          "code": "725046003",
          "description": "Mitochondrial complex I deficiency due to deficiency of acyl-coenzyme A dehydrogenase 9 (disorder)"
        },
        {
          "id": 539065,
          "code": "725078006",
          "description": "Congenital disorder of glycosylation type 1e (disorder)"
        },
        {
          "id": 539066,
          "code": "725079003",
          "description": "Congenital disorder of glycosylation type 1j (disorder)"
        },
        {
          "id": 539067,
          "code": "725286002",
          "description": "Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme A synthase (disorder)"
        },
        {
          "id": 539068,
          "code": "725289009",
          "description": "5-amino-4-imidazole carboxamide ribosiduria (disorder)"
        },
        {
          "id": 539069,
          "code": "725296006",
          "description": "Mucolipidosis type IV (disorder)"
        },
        {
          "id": 539070,
          "code": "725587007",
          "description": "Carbohydrate deficient glycoprotein syndrome type 2d (disorder)"
        },
        {
          "id": 539071,
          "code": "7259005",
          "description": "Mucopolysaccharidosis IV-A (disorder)"
        },
        {
          "id": 539072,
          "code": "726021008",
          "description": "Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539073,
          "code": "7265005",
          "description": "Glycogen storage disease, type I (disorder)"
        },
        {
          "id": 539074,
          "code": "73123008",
          "description": "Mucopolysaccharidosis type I-S (disorder)"
        },
        {
          "id": 539075,
          "code": "73146005",
          "description": "Hunter's syndrome, severe form (disorder)"
        },
        {
          "id": 539076,
          "code": "732246009",
          "description": "X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder)"
        },
        {
          "id": 539077,
          "code": "732252005",
          "description": "Carbohydrate deficient glycoprotein syndrome type 2k (disorder)"
        },
        {
          "id": 539078,
          "code": "733044009",
          "description": "Dermatoleukodystrophy (disorder)"
        },
        {
          "id": 539079,
          "code": "733083006",
          "description": "Congenital disorder of glycosylation type 1r (disorder)"
        },
        {
          "id": 539080,
          "code": "733084000",
          "description": "Congenital disorder of glycosylation type 1n (disorder)"
        },
        {
          "id": 539081,
          "code": "733085004",
          "description": "Congenital disorder of glycosylation type 1p (disorder)"
        },
        {
          "id": 539082,
          "code": "733111000",
          "description": "Congenital disorder of glycosylation type 1w (disorder)"
        },
        {
          "id": 539083,
          "code": "733112007",
          "description": "Congenital disorder of glycosylation type 1x (disorder)"
        },
        {
          "id": 539084,
          "code": "733115009",
          "description": "Congenital disorder of glycosylation type 1y (disorder)"
        },
        {
          "id": 539085,
          "code": "733422008",
          "description": "Prion protein systemic amyloidosis (disorder)"
        },
        {
          "id": 539086,
          "code": "733450008",
          "description": "Carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1B member 1 (disorder)"
        },
        {
          "id": 539087,
          "code": "733451007",
          "description": "Congenital disorder of glycosylation type 1s (disorder)"
        },
        {
          "id": 539088,
          "code": "733452000",
          "description": "Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)"
        },
        {
          "id": 539089,
          "code": "733466005",
          "description": "Camptodactyly taurinuria syndrome (disorder)"
        },
        {
          "id": 539090,
          "code": "733601006",
          "description": "Congenital disorder of glycosylation type 1q (disorder)"
        },
        {
          "id": 539091,
          "code": "733630004",
          "description": "Deficiency of alpha-ketoglutarate dehydrogenase (disorder)"
        },
        {
          "id": 539092,
          "code": "733636005",
          "description": "3-phosphoglycerate dehydrogenase deficiency juvenile form (disorder)"
        },
        {
          "id": 539093,
          "code": "733637001",
          "description": "3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)"
        },
        {
          "id": 539094,
          "code": "733729003",
          "description": "Primary localized cutaneous amyloidosis (disorder)"
        },
        {
          "id": 539095,
          "code": "734990008",
          "description": "Primary hyperoxaluria type III (disorder)"
        },
        {
          "id": 539096,
          "code": "735421004",
          "description": "Leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome (disorder)"
        },
        {
          "id": 539097,
          "code": "735422006",
          "description": "Deficiency of mitochondrial aspartyl transfer ribonucleic acid synthetase (disorder)"
        },
        {
          "id": 539098,
          "code": "735732003",
          "description": "Liver disease co-occurrent and due to mitochondrial disorder (disorder)"
        },
        {
          "id": 539099,
          "code": "736652002",
          "description": "Neonatal metabolic disorder (disorder)"
        },
        {
          "id": 539100,
          "code": "737183007",
          "description": "Interstitial lung disease due to metabolic disease (disorder)"
        },
        {
          "id": 539101,
          "code": "737203001",
          "description": "Disorder of liver co-occurrent and due to disorder of urea cycle (disorder)"
        },
        {
          "id": 539102,
          "code": "737220002",
          "description": "Anemia due to metabolic disorder (disorder)"
        },
        {
          "id": 539103,
          "code": "737241008",
          "description": "Autonomic neuropathy due to metabolic disease (disorder)"
        },
        {
          "id": 539104,
          "code": "73843004",
          "description": "Cobalamin A disease (disorder)"
        },
        {
          "id": 539105,
          "code": "7425008",
          "description": "Hereditary coproporphyria (disorder)"
        },
        {
          "id": 539106,
          "code": "74320008",
          "description": "Woolf's syndrome (disorder)"
        },
        {
          "id": 539107,
          "code": "74653006",
          "description": "Cobalamin C disease (disorder)"
        },
        {
          "id": 539108,
          "code": "75030003",
          "description": "Renal glucosuria, type A (disorder)"
        },
        {
          "id": 539109,
          "code": "75238000",
          "description": "Mucopolysaccharidosis III-C (disorder)"
        },
        {
          "id": 539110,
          "code": "75610003",
          "description": "Mucopolysaccharidosis type I (disorder)"
        },
        {
          "id": 539111,
          "code": "75652008",
          "description": "Familial renal iminoglycinuria (disorder)"
        },
        {
          "id": 539112,
          "code": "7573000",
          "description": "Classical phenylketonuria (disorder)"
        },
        {
          "id": 539113,
          "code": "76175005",
          "description": "Glutaric aciduria, type 1 (disorder)"
        },
        {
          "id": 539114,
          "code": "762278005",
          "description": "Disorder of liver due to disorder of amino acid metabolism (disorder)"
        },
        {
          "id": 539115,
          "code": "763203009",
          "description": "Combined oxidative phosphorylation defect type 15 (disorder)"
        },
        {
          "id": 539116,
          "code": "763204003",
          "description": "Combined oxidative phosphorylation defect type 7 (disorder)"
        },
        {
          "id": 539117,
          "code": "763209008",
          "description": "Combined oxidative phosphorylation defect type 9 (disorder)"
        },
        {
          "id": 539118,
          "code": "763211004",
          "description": "Combined oxidative phosphorylation defect type 21 (disorder)"
        },
        {
          "id": 539119,
          "code": "764095005",
          "description": "Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder)"
        },
        {
          "id": 539120,
          "code": "764456001",
          "description": "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)"
        },
        {
          "id": 539121,
          "code": "764849002",
          "description": "Amyloidosis cutis dyschromia (disorder)"
        },
        {
          "id": 539122,
          "code": "764860006",
          "description": "3-methylglutaconic aciduria type 7 (disorder)"
        },
        {
          "id": 539123,
          "code": "764943000",
          "description": "Combined oxidative phosphorylation defect type 2 (disorder)"
        },
        {
          "id": 539124,
          "code": "764962002",
          "description": "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (disorder)"
        },
        {
          "id": 539125,
          "code": "765137006",
          "description": "Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency (disorder)"
        },
        {
          "id": 539126,
          "code": "765146000",
          "description": "Oculocutaneous albinism type 1 (disorder)"
        },
        {
          "id": 539127,
          "code": "765325002",
          "description": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)"
        },
        {
          "id": 539128,
          "code": "765329008",
          "description": "Carbamoyl-phosphate synthetase 1 deficiency (disorder)"
        },
        {
          "id": 539129,
          "code": "765401006",
          "description": "Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form (disorder)"
        },
        {
          "id": 539130,
          "code": "766876004",
          "description": "Combined oxidative phosphorylation defect type 4 (disorder)"
        },
        {
          "id": 539131,
          "code": "767133009",
          "description": "Familial hypercholesterolemia co-occurrent and due to combined heterozygous low density lipoprotein receptor and low density lipoprotein receptor adaptor protein 1 mutations (disorder)"
        },
        {
          "id": 539132,
          "code": "768663003",
          "description": "Leukoencephalopathy with mild cerebellar ataxia and white matter edema (disorder)"
        },
        {
          "id": 539133,
          "code": "768846004",
          "description": "N-glycanase 1 congenital disorder of deglycosylation (disorder)"
        },
        {
          "id": 539134,
          "code": "769065000",
          "description": "Tubulin beta 4A class IVa related leukodystrophy (disorder)"
        },
        {
          "id": 539135,
          "code": "771444002",
          "description": "Methylmalonic aciduria due to transcobalamin receptor defect (disorder)"
        },
        {
          "id": 539136,
          "code": "771448004",
          "description": "Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder)"
        },
        {
          "id": 539137,
          "code": "771478008",
          "description": "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder)"
        },
        {
          "id": 539138,
          "code": "771509001",
          "description": "Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation (disorder)"
        },
        {
          "id": 539139,
          "code": "771513008",
          "description": "Infantile hypertrophic cardiomyopathy due to mitochondrial ribosomal protein L44 deficiency (disorder)"
        },
        {
          "id": 539140,
          "code": "771516000",
          "description": "Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539141,
          "code": "773418007",
          "description": "Xylosyltransferase 1 congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539142,
          "code": "773423007",
          "description": "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (disorder)"
        },
        {
          "id": 539143,
          "code": "773492007",
          "description": "Childhood-onset spasticity with hyperglycinemia (disorder)"
        },
        {
          "id": 539144,
          "code": "773575001",
          "description": "Ocular albinism with congenital sensorineural deafness (disorder)"
        },
        {
          "id": 539145,
          "code": "773726000",
          "description": "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (disorder)"
        },
        {
          "id": 539146,
          "code": "77402005",
          "description": "Disorder of lysine AND/OR hydroxylysine metabolism (disorder)"
        },
        {
          "id": 539147,
          "code": "775908005",
          "description": "Combined oxidative phosphorylation defect type 17 (disorder)"
        },
        {
          "id": 539148,
          "code": "777999008",
          "description": "Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)"
        },
        {
          "id": 539149,
          "code": "778065005",
          "description": "Combined oxidative phosphorylation defect type 14 (disorder)"
        },
        {
          "id": 539150,
          "code": "780820008",
          "description": "Isolated adenosine triphosphate synthase deficiency (disorder)"
        },
        {
          "id": 539151,
          "code": "781386002",
          "description": "Deficiency of nudix hydrolase 15 (disorder)"
        },
        {
          "id": 539152,
          "code": "782340001",
          "description": "Acquired intolerance to fructose (finding)"
        },
        {
          "id": 539153,
          "code": "782744007",
          "description": "Lipoic acid synthetase deficiency (disorder)"
        },
        {
          "id": 539154,
          "code": "782745008",
          "description": "Lipoyl transferase 1 deficiency (disorder)"
        },
        {
          "id": 539155,
          "code": "782757004",
          "description": "Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder)"
        },
        {
          "id": 539156,
          "code": "782828005",
          "description": "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539157,
          "code": "782918002",
          "description": "2-aminoadipic 2-oxoadipic aciduria (disorder)"
        },
        {
          "id": 539158,
          "code": "783057002",
          "description": "DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)"
        },
        {
          "id": 539159,
          "code": "78311009",
          "description": "Histidine transport defect (disorder)"
        },
        {
          "id": 539160,
          "code": "783146009",
          "description": "NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)"
        },
        {
          "id": 539161,
          "code": "783157004",
          "description": "Leigh syndrome with nephrotic syndrome (disorder)"
        },
        {
          "id": 539162,
          "code": "783160006",
          "description": "Hereditary gelsolin amyloidosis (disorder)"
        },
        {
          "id": 539163,
          "code": "783161005",
          "description": "Familial dementia British type (disorder)"
        },
        {
          "id": 539164,
          "code": "783178001",
          "description": "Combined oxidative phosphorylation deficiency type 20 (disorder)"
        },
        {
          "id": 539165,
          "code": "783258000",
          "description": "Familial dementia Danish type (disorder)"
        },
        {
          "id": 539166,
          "code": "783558004",
          "description": "Combined oxidative phosphorylation defect type 11 (disorder)"
        },
        {
          "id": 539167,
          "code": "783717008",
          "description": "Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder)"
        },
        {
          "id": 539168,
          "code": "783734000",
          "description": "Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency (disorder)"
        },
        {
          "id": 539169,
          "code": "784346006",
          "description": "Navajo neurohepatopathy (disorder)"
        },
        {
          "id": 539170,
          "code": "785704008",
          "description": "Malabsorption syndrome due to acquired intolerance to fructose (disorder)"
        },
        {
          "id": 539171,
          "code": "78586005",
          "description": "gamma-Glutamyltransferase deficiency (disorder)"
        },
        {
          "id": 539172,
          "code": "78642008",
          "description": "Ocular albinism, type I (disorder)"
        },
        {
          "id": 539173,
          "code": "787412002",
          "description": "Short chain acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539174,
          "code": "789018001",
          "description": "Radiculopathy due to metabolic disorder (disorder)"
        },
        {
          "id": 539175,
          "code": "78921008",
          "description": "Autosomal recessive ocular albinism (disorder)"
        },
        {
          "id": 539176,
          "code": "791000124107",
          "description": "2-methyl-3-hydroxybutyric aciduria (disorder)"
        },
        {
          "id": 539177,
          "code": "79385002",
          "description": "Lowe syndrome (disorder)"
        },
        {
          "id": 539178,
          "code": "79754008",
          "description": "Restrictive cardiomyopathy secondary to amyloidosis (disorder)"
        },
        {
          "id": 539179,
          "code": "79886009",
          "description": "Disorder of copper metabolism (disorder)"
        },
        {
          "id": 539180,
          "code": "79935000",
          "description": "Farber's lipogranulomatosis (disorder)"
        },
        {
          "id": 539181,
          "code": "80473005",
          "description": "Neonatal hyperhistidinemia (disorder)"
        },
        {
          "id": 539182,
          "code": "80544005",
          "description": "Spongy degeneration of central nervous system (disorder)"
        },
        {
          "id": 539183,
          "code": "80887004",
          "description": "Inherited methylmalonic acidemia AND homocystinuria (disorder)"
        },
        {
          "id": 539184,
          "code": "80908008",
          "description": "Ornithine carbamoyltransferase deficiency (disorder)"
        },
        {
          "id": 539185,
          "code": "81685000",
          "description": "Pancreatic alpha-amylase deficiency (disorder)"
        },
        {
          "id": 539186,
          "code": "81854007",
          "description": "Alexander's disease (disorder)"
        },
        {
          "id": 539187,
          "code": "819953000",
          "description": "Glycogen storage disease due to muscle phosphorylase kinase deficiency (disorder)"
        },
        {
          "id": 539188,
          "code": "82245003",
          "description": "Cobalamin B disease (disorder)"
        },
        {
          "id": 539189,
          "code": "8231007",
          "description": "Ocular amyloid deposit (disorder)"
        },
        {
          "id": 539190,
          "code": "82319005",
          "description": "Acyl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539191,
          "code": "82342003",
          "description": "Yellow mutant oculocutaneous albinism (disorder)"
        },
        {
          "id": 539192,
          "code": "82500001",
          "description": "Wolman's disease (disorder)"
        },
        {
          "id": 539193,
          "code": "82994006",
          "description": "Amino acid deficiency (disorder)"
        },
        {
          "id": 539194,
          "code": "83076007",
          "description": "Disorder of glycine metabolism (disorder)"
        },
        {
          "id": 539195,
          "code": "83201000119108",
          "description": "Secondary carnitine deficiency (disorder)"
        },
        {
          "id": 539196,
          "code": "836343001",
          "description": "Hereditary xanthinuria type 1 (disorder)"
        },
        {
          "id": 539197,
          "code": "838319005",
          "description": "Autonomic neuropathy due to Fabry disease (disorder)"
        },
        {
          "id": 539198,
          "code": "83832001",
          "description": "Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)"
        },
        {
          "id": 539199,
          "code": "838348004",
          "description": "Autonomic neuropathy due to Tangier disease (disorder)"
        },
        {
          "id": 539200,
          "code": "83858001",
          "description": "Indicanuria (disorder)"
        },
        {
          "id": 539201,
          "code": "84121007",
          "description": "Iminoglycinuria (disorder)"
        },
        {
          "id": 539202,
          "code": "84264005",
          "description": "Muscle carnitine deficiency (disorder)"
        },
        {
          "id": 539203,
          "code": "84725008",
          "description": "Restrictive cardiomyopathy secondary to mucopolysaccharidosis (disorder)"
        },
        {
          "id": 539204,
          "code": "84816006",
          "description": "Chester-type porphyria (disorder)"
        },
        {
          "id": 539205,
          "code": "85020001",
          "description": "Cystinuria (disorder)"
        },
        {
          "id": 539206,
          "code": "85444005",
          "description": "Disorder of pyrimidine metabolism (disorder)"
        },
        {
          "id": 539207,
          "code": "858580008",
          "description": "Secondary systemic amyloidosis (disorder)"
        },
        {
          "id": 539208,
          "code": "860839005",
          "description": "Cardiomyopathy due to storage disease (disorder)"
        },
        {
          "id": 539209,
          "code": "860858001",
          "description": "Glycogen storage disease due to muscle pyruvate kinase deficiency (disorder)"
        },
        {
          "id": 539210,
          "code": "860859009",
          "description": "Erythropoietic protoporphyria due to ferrochelatase deficiency (disorder)"
        },
        {
          "id": 539211,
          "code": "860860004",
          "description": "Glycogen storage disease type IXB (disorder)"
        },
        {
          "id": 539212,
          "code": "86095007",
          "description": "Inborn error of metabolism (disorder)"
        },
        {
          "id": 539213,
          "code": "86444004",
          "description": "Niemann-Pick disease, type C, acute form (disorder)"
        },
        {
          "id": 539214,
          "code": "86995005",
          "description": "Dilated cardiomyopathy secondary to mucopolysaccharidosis (disorder)"
        },
        {
          "id": 539215,
          "code": "870284000",
          "description": "Pelizaeus Merzbacher like disease due to HSPD1 mutation (disorder)"
        },
        {
          "id": 539216,
          "code": "870285004",
          "description": "Pelizaeus Merzbacher like disease due to SLC16A2 mutation (disorder)"
        },
        {
          "id": 539217,
          "code": "870286003",
          "description": "Pelizaeus Merzbacher like disease due to AIMP1 mutation (disorder)"
        },
        {
          "id": 539218,
          "code": "870287007",
          "description": "Pelizaeus Merzbacher like disease due to GJC2 mutation (disorder)"
        },
        {
          "id": 539219,
          "code": "870313002",
          "description": "Perinatal lethal Gaucher disease (disorder)"
        },
        {
          "id": 539220,
          "code": "871638006",
          "description": "Hypertrophic cardiomyopathy due to glycogen storage disease (disorder)"
        },
        {
          "id": 539221,
          "code": "871639003",
          "description": "Dilated cardiomyopathy due to mitochondrial disease (disorder)"
        },
        {
          "id": 539222,
          "code": "871649000",
          "description": "Hypertrophic cardiomyopathy due to lysosomal disease (disorder)"
        },
        {
          "id": 539223,
          "code": "87607002",
          "description": "Pelizaeus-Merzbacher disease, classic form (disorder)"
        },
        {
          "id": 539224,
          "code": "87827003",
          "description": "Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)"
        },
        {
          "id": 539225,
          "code": "88393000",
          "description": "Sanfilippo syndrome (disorder)"
        },
        {
          "id": 539226,
          "code": "8849004",
          "description": "Uridine diphosphate glucose-4-epimerase deficiency (disorder)"
        },
        {
          "id": 539227,
          "code": "88518009",
          "description": "Wilson's disease (disorder)"
        },
        {
          "id": 539228,
          "code": "89449005",
          "description": "Systemic amyloidosis (disorder)"
        },
        {
          "id": 539229,
          "code": "89579000",
          "description": "Tetrahydrofolate methyltransferase deficiency (disorder)"
        },
        {
          "id": 539230,
          "code": "89597008",
          "description": "Glycogen storage disease, type VII (disorder)"
        },
        {
          "id": 539231,
          "code": "90093009",
          "description": "Hereditary orotic aciduria, type 2 (disorder)"
        },
        {
          "id": 539232,
          "code": "90500005",
          "description": "Carnitine palmitoyltransferase deficiency (disorder)"
        },
        {
          "id": 539233,
          "code": "9105005",
          "description": "Muscle adenosine monophosphate deaminase deficiency (disorder)"
        },
        {
          "id": 539234,
          "code": "9128006",
          "description": "Disorder of the gamma-glutamyl cycle (disorder)"
        },
        {
          "id": 539235,
          "code": "9133005",
          "description": "Familial amyloid polyneuropathy, Iowa type (disorder)"
        },
        {
          "id": 539236,
          "code": "9311003",
          "description": "Hermansky-Pudlak syndrome (disorder)"
        },
        {
          "id": 539237,
          "code": "9537004",
          "description": "Juvenile GM 2 gangliosidosis (disorder)"
        },
        {
          "id": 539238,
          "code": "9551004",
          "description": "Hepatic amyloidosis (disorder)"
        },
        {
          "id": 539239,
          "code": "95565000",
          "description": "Pseudoporphyria (disorder)"
        }
      ]
    }
  ],
  "version_history": [
    {
      "version_id": 11529,
      "version_name": "Metabolic (SNOMED-CT)",
      "version_date": "2025-01-19T16:49:02.184616Z",
      "is_published": true,
      "is_latest": true
    }
  ]
}