[ { "phenotype_id": "PH1711", "phenotype_version_id": 3636, "name": "Chronic paediatric conditions: Metabolic", "definition": "This code list is part of a set of harmonised code lists to identify chronic paediatric\nconditions across primary and secondary care datasets across the UK.\n\n- ICD-10 metabolic conditions as per Hardelid 2014, mapped to SNOMED and Read v2 using CALIBER.\n- Excludes disorders of mineral metabolism.\n- Includes e.g., disorders of amino acid, carbohydrate, sphingolipid, glycosaminoglycan, lipoprotein, purine and porphyrin metabolism.\n- Includes conditions as per the ICD-10 chapter of metabolic disease, rather than for the specialty of Inherited Metabolic Disease, e.g., includes multisystem disorders such as amyloidosis and cystinosis.\n\n### Methods\n\nChronic paediatric conditions were defined as health problems requiring medical follow-up\nfor more than 12 months in 50% or more of cases. Code lists were produced by mapping\nexisting ICD-10 codes for chronic paediatric conditions to SNOMED and Read v2 codes\nusing the CALIBER R package, with review by paediatric sub-specialists.\n\nAn established ICD-10 code list of chronic paediatric conditions (Hardelid 2014)\nwas used as the basis for the new lists.[1] Chronic paediatric conditions were defined\nas any health problem requiring medical follow-up (hospital admission, outpatient\nfollow up or use of support services such as physiotherapy) for more than 12 months\nin 50% or more of cases.[1] A Chronic Paediatric Conditions Committee of paediatric\nsub-specialists was established. The original ICD-10 list was screened by two paediatricians\nand acute conditions removed, with disagreements resolved by a third paediatrician.\nConditions which were likely acute and would not fulfil our chronic disease definition\nwere excluded, including skeletal injuries and self-harm. Drug-induced conditions\nwere excluded as chronicity was not known. Infections other than human immunodeficiency\nvirus (HIV), hepatitis B or C, or congenital infections (syphilis / toxoplasmosis\n/ rubella / herpes simplex virus / cytomegalovirus) were excluded. Chronic sequelae\nof infections were retained.\n\nPublished code lists were then identified for Read v2 and SNOMED codes for well-characterised\nconditions including asthma, diabetes, cystic fibrosis and cancer. The remaining\nICD-10 codes were mapped to SNOMED and Read v2 codes using the CALIBER R package\nand Technology Reference Update Distribution NHS Data Migration tables [2] to produce\nnew code lists suitable for primary care data. These resulting code lists were screened\nby two sub-specialists to ensure conditions were chronic and in the correct subgroup\nwith disagreements resolved by a third clinician.\n\n### References:\n\n1. Hardelid P, Dattani N, Gilbert R. Estimating the prevalence of chronic conditions in children who die in England, Scotland and Wales: a data linkage cohort study. BMJ Open 2014; 4: e005331.\n2. CALIBER codelists-package: Generate ICD, Read and OPCS codelists in CALIBER codelists: Generate ICD10, Read and OPCS codelists, [https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html](https://rdrr.io/rforge/CALIBERcodelists/man/CALIBERcodelists-package.html) (accessed 19 October 2022).\n\n", "implementation": "We have considered conditions to be active if they had been coded for in the preceding\nfive years. In addition, conditions from the following subgroups were considered\nto be permanent, therefore active if coded for at any time: metabolic, diabetes,\ncystic fibrosis, transplant, receiving palliative care, other congenital multisystem\nsyndromes and chromosomal abnormalities, immunological and cerebral palsy / paralysis\n(a subgroup of \"Other neurology\" code list).\n", "publications": [], "validation": "", "citation_requirements": "To our knowledge, these are the first set of harmonised code lists for chronic paediatric\nconditions that span commonly used primary and secondary care coding systems in the\nUK. We hope they will prove a valuable resource for the paediatric research community\nand welcome suggestions for further development ([Olivia.Swann@ed.ac.uk](mailto:Olivia.Swann@ed.ac.uk)).\n", "created": "2025-01-19T16:49:02.228343Z", "author": "Swann OV, Williams TC, Fraser LK, Farrell J, Parker M, Kennedy J, Seabourne M, Brophy S, Harrison EM, Docherty AB, Pollock L", "collections": [ { "name": "Phenotype Library", "value": 18 } ], "tags": null, "organisation": null, "world_access": 2, "updated": "2025-01-19T16:49:02.212900Z", "sex": [ { "name": "Both", "value": "3" } ], "type": [ { "name": "Disease or syndrome", "value": "2" } ], "ontology": [ { "name": "Paediatrics", "value": 842203 }, { "name": "Paediatric and Perinatal Pathology", "value": 842275 } ], "phenoflowid": "", "data_sources": [ { "name": "Hospital Episode Statistics Admitted Patient Care", "value": 2, "uid": "6599230a-df54-4615-937c-d724d239491f", "url": "https://healthdatagateway.org/en/dataset/875", "datasource_id": 875 }, { "name": "OpenSAFELY SNOMED CT", "value": 36, "datasource_id": 36 }, { "name": "Patient Episode Dataset for Wales (PEDW)", "value": 40, "uid": "4c33a5d2-164c-41d7-9797-dc2b008cc852", "url": "https://healthdatagateway.org/en/dataset/318", "datasource_id": 318 }, { "name": "Welsh Longitudinal General Practice Dataset (WLGP) - Welsh Primary Care", "value": 502, "uid": "33fc3ffd-aa4c-4a16-a32f-0c900aaea3d2", "url": "https://healthdatagateway.org/en/dataset/355", "datasource_id": 355 } ], "coding_system": [ { "name": "SNOMED CT codes", "value": 9 }, { "name": "ICD10 codes", "value": 4 }, { "name": "Read codes v2", "value": 5 } ], "event_date_range": "2021/01/01 - 2021/01/01", "concept_information": [ { "concept_id": 4167, "concept_version_id": 11527, "concept_name": "Metabolic (ICD-10)", "coding_system": { "id": 4, "name": "ICD10 codes", "description": "ICD10 Codes" }, "phenotype_id": "PH1711", "phenotype_version_id": 3636, "phenotype_name": "Chronic paediatric conditions: Metabolic", "code_attribute_header": null, "codes": [ { "code": "E700", "description": "Classical phenylketonuria", "attributes": null }, { "code": "E702", "description": "Disorders of tyrosine metabolism", "attributes": null }, { "code": "E703", "description": "Albinism", "attributes": null }, { "code": "E708", "description": "Other disorders of aromatic amino-acid metabolism", "attributes": null }, { "code": "E709", "description": "Disorder of aromatic amino-acid metabolism, unspecified", "attributes": null }, { "code": "E71", "description": "Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism", "attributes": null }, { "code": "E710", "description": "Maple-syrup-urine disease", "attributes": null }, { "code": "E711", "description": "Other disorders of branched-chain amino-acid metabolism", "attributes": null }, { "code": "E712", "description": "Disorder of branched-chain amino-acid metabolism, unspecified", "attributes": null }, { "code": "E713", "description": "Disorders of fatty-acid metabolism", "attributes": null }, { "code": "E72", "description": "Other disorders of amino-acid metabolism", "attributes": null }, { "code": "E720", "description": "Disorders of amino-acid transport", "attributes": null }, { "code": "E721", "description": "Disorders of sulfur-bearing amino-acid metabolism", "attributes": null }, { "code": "E722", "description": "Disorders of urea cycle metabolism", "attributes": null }, { "code": "E723", "description": "Disorders of lysine and hydroxylysine metabolism", "attributes": null }, { "code": "E724", "description": "Disorders of ornithine metabolism", "attributes": null }, { "code": "E725", "description": "Disorders of glycine metabolism", "attributes": null }, { "code": "E728", "description": "Other specified disorders of amino-acid metabolism", "attributes": null }, { "code": "E729", "description": "Disorder of amino-acid metabolism, unspecified", "attributes": null }, { "code": "E74", "description": "Other disorders of carbohydrate metabolism", "attributes": null }, { "code": "E740", "description": "Glycogen storage disease", "attributes": null }, { "code": "E741", "description": "Disorders of fructose metabolism", "attributes": null }, { "code": "E742", "description": "Disorders of galactose metabolism", "attributes": null }, { "code": "E744", "description": "Disorders of pyruvate metabolism and gluconeogenesis", "attributes": null }, { "code": "E748", "description": "Other specified disorders of carbohydrate metabolism", "attributes": null }, { "code": "E75", "description": "Disorders of sphingolipid metabolism and other lipid storage disorders", "attributes": null }, { "code": "E750", "description": "GM2 gangliosidosis", "attributes": null }, { "code": "E751", "description": "Other gangliosidosis", "attributes": null }, { "code": "E752", "description": "Other sphingolipidosis", "attributes": null }, { "code": "E753", "description": "Sphingolipidosis, unspecified", "attributes": null }, { "code": "E754", "description": "Neuronal ceroid lipofuscinosis", "attributes": null }, { "code": "E755", "description": "Other lipid storage disorders", "attributes": null }, { "code": "E756", "description": "Other lipid storage disorders", "attributes": null }, { "code": "E76", "description": "Disorders of glycosaminoglycan metabolism", "attributes": null }, { "code": "E760", "description": "Mucopolysaccharidosis, type I", "attributes": null }, { "code": "E761", "description": "Mucopolysaccharidosis, type II", "attributes": null }, { "code": "E762", "description": "Other mucopolysaccharidoses", "attributes": null }, { "code": "E763", "description": "Mucopolysaccharidosis, unspecified", "attributes": null }, { "code": "E768", "description": "Other disorders of glucosaminoglycan metabolism", "attributes": null }, { "code": "E769", "description": "Disorder of glucosaminoglycan metabolism, unspecified", "attributes": null }, { "code": "E77", "description": "Disorders of glycoprotein metabolism", "attributes": null }, { "code": "E770", "description": "Defects in post-translational modification of lysosomal enzymes", "attributes": null }, { "code": "E771", "description": "Defects in glycoprotein degradation", "attributes": null }, { "code": "E778", "description": "Other disorders of glycoprotein metabolism", "attributes": null }, { "code": "E779", "description": "Disorder of glycoprotein metabolism, unspecified", "attributes": null }, { "code": "E78", "description": "Disorders of lipoprotein metabolism and other lipidaemias", "attributes": null }, { "code": "E780", "description": "Pure hypercholesterolaemia", "attributes": null }, { "code": "E781", "description": "Pure hyperglyceridaemia", "attributes": null }, { "code": "E782", "description": "Mixed hyperlipidaemia", "attributes": null }, { "code": "E783", "description": "Hyperchylomicronaemia", "attributes": null }, { "code": "E784", "description": "Other hyperlipidaemia", "attributes": null }, { "code": "E786", "description": "Lipoprotein deficiency", "attributes": null }, { "code": "E788", "description": "Other disorders of lipoprotein metabolism", "attributes": null }, { "code": "E791", "description": "Lesch-Nyhan syndrome", "attributes": null }, { "code": "E798", "description": "Other disorders of purine and pyrimidine metabolism", "attributes": null }, { "code": "E799", "description": "Disorder of purine and pyrimidine metabolism, unspecified", "attributes": null }, { "code": "E800", "description": "Hereditary erythropoietic porphyria", "attributes": null }, { "code": "E801", "description": "Porphyria cutanea tarda", "attributes": null }, { "code": "E802", "description": "Other porphyria", "attributes": null }, { "code": "E830", "description": "Disorders of copper metabolism", "attributes": null }, { "code": "E85", "description": "Amyloidosis", "attributes": null }, { "code": "E850", "description": "Non-neuropathic heredofamilial amyloidosis", "attributes": null }, { "code": "E851", "description": "Neuropathic heredofamilial amyloidosis", "attributes": null }, { "code": "E852", "description": "Heredofamilial amyloidosis, unspecified", "attributes": null }, { "code": "E853", "description": "Secondary systemic amyloidosis", "attributes": null }, { "code": "E854", "description": "Organ-limited amyloidosis", "attributes": null }, { "code": "E858", "description": "Other amyloidosis", "attributes": null }, { "code": "E859", "description": "Amyloidosis, unspecified", "attributes": null }, { "code": "E88", "description": "Other metabolic disorders", "attributes": null }, { "code": "E880", "description": "Disorders of plasma-protein metabolism, not elsewhere classified", "attributes": null }, { "code": "E888", "description": "Other specified metabolic disorders", "attributes": null }, { "code": "E889", "description": "Metabolic disorder, unspecified", "attributes": null } ] }, { "concept_id": 4168, "concept_version_id": 11528, "concept_name": "Metabolic (Read v2)", "coding_system": { "id": 5, "name": "Read codes v2", "description": "Read codes v2" }, "phenotype_id": "PH1711", "phenotype_version_id": 3636, "phenotype_name": "Chronic paediatric conditions: Metabolic", "code_attribute_header": null, "codes": [ { "code": "C30..00", "description": "Disorders of amino-acid transport and metabolism", "attributes": null }, { "code": "C300.00", "description": "Disorders of amino-acid transport", "attributes": null }, { "code": "C300000", "description": "Cystinosis", "attributes": null }, { "code": "C300200", "description": "Cystinaemia", "attributes": null }, { "code": "C300300", "description": "Fanconi-de-Toni syndrome", "attributes": null }, { "code": "C300311", "description": "Cystine storage disease", "attributes": null }, { "code": "C300500", "description": "Succinic semialdehyde dehydrogenase deficiency", "attributes": null }, { "code": "C300800", "description": "Juvenile nephropathic cystinosis", "attributes": null }, { "code": "C300811", "description": "Adolescent cystinosis", "attributes": null }, { "code": "C300B00", "description": "Dibasic aminoaciduria - type I", "attributes": null }, { "code": "C300C00", "description": "Lysinuric protein intolerance", "attributes": null }, { "code": "C300C11", "description": "Dibasic aminoaciduria - type II", "attributes": null }, { "code": "C300D00", "description": "Infantile nephropathic cystinosis", "attributes": null }, { "code": "C300E00", "description": "Dibasic aminoaciduria", "attributes": null }, { "code": "C300y00", "description": "Other specified amino-acid transport disorder", "attributes": null }, { "code": "C300y11", "description": "Glycinuria", "attributes": null }, { "code": "C300y12", "description": "Hypophosphataemic rickets with nephrotic-glycosuric dwarfism", "attributes": null }, { "code": "C300z00", "description": "Amino-acid transport disorder NOS", "attributes": null }, { "code": "C301.00", "description": "Phenylketonuria", "attributes": null }, { "code": "C302.00", "description": "Other disturbances of aromatic amino-acid metabolism", "attributes": null }, { "code": "C302000", "description": "Alkaptonuria", "attributes": null }, { "code": "C302011", "description": "Homogentisic acid defect", "attributes": null }, { "code": "C302100", "description": "Hydroxykynureninuria", "attributes": null }, { "code": "C302.11", "description": "Albinism", "attributes": null }, { "code": "C302200", "description": "Indicanuria", "attributes": null }, { "code": "C302300", "description": "Tyrosinosis", "attributes": null }, { "code": "C302400", "description": "Tyrosinuria", "attributes": null }, { "code": "C302500", "description": "Lowe disease", "attributes": null }, { "code": "C302511", "description": "Oculocerebrorenal syndrome", "attributes": null }, { "code": "C302512", "description": "Oculocerebrorenal dystrophy", "attributes": null }, { "code": "C302600", "description": "Hypertyrosinaemia", "attributes": null }, { "code": "C302611", "description": "Tyrosinaemia", "attributes": null }, { "code": "C302700", "description": "Albinism", "attributes": null }, { "code": "C302712", "description": "Albino", "attributes": null }, { "code": "C302713", "description": "Albinismus", "attributes": null }, { "code": "C302800", "description": "Chediak-Higashi syndrome", "attributes": null }, { "code": "C302900", "description": "Hermansky-Pudlak syndrome", "attributes": null }, { "code": "C302A00", "description": "Partial albinism", "attributes": null }, { "code": "C302y00", "description": "Other specified disturbance of aromatic amino-acid metabolism", "attributes": null }, { "code": "C302y11", "description": "Oasthouse urine disease", "attributes": null }, { "code": "C302z00", "description": "Disturbance of aromatic amino-acid metabolism NOS", "attributes": null }, { "code": "C303.00", "description": "Disturbances of branched-chain amino-acid metabolism", "attributes": null }, { "code": "C303000", "description": "Leucinosis", "attributes": null }, { "code": "C303011", "description": "Leucine sensitivity", "attributes": null }, { "code": "C303100", "description": "Isoleucinosis", "attributes": null }, { "code": "C303200", "description": "Hypervalinaemia", "attributes": null }, { "code": "C303211", "description": "Valinosis", "attributes": null }, { "code": "C303300", "description": "Maple syrup urine disease", "attributes": null }, { "code": "C303400", "description": "Hypervalinaemia", "attributes": null }, { "code": "C303y00", "description": "Other specified disturbance of branched chain amino-acid metabolism", "attributes": null }, { "code": "C303z00", "description": "Disturbance of branched-chain amino-acid metabolism NOS", "attributes": null }, { "code": "C304.00", "description": "Disturbance of sulphur-bearing amino-acid metabolism", "attributes": null }, { "code": "C304200", "description": "Methioninaemia", "attributes": null }, { "code": "C304211", "description": "Hypermethioninaemia", "attributes": null }, { "code": "C304300", "description": "Homocystinuria", "attributes": null }, { "code": "C304400", "description": "Sulphite oxidase deficiency", "attributes": null }, { "code": "C304500", "description": "Hyperhomocysteinaemia", "attributes": null }, { "code": "C304y00", "description": "Other specified disturbance of sulphur-bearing amino-acid metabolism", "attributes": null }, { "code": "C304z00", "description": "Disturbance of sulphur-bearing amino-acid metabolism NOS", "attributes": null }, { "code": "C304z11", "description": "Methionine malabsorption syndrome", "attributes": null }, { "code": "C305.00", "description": "Disturbance of histidine metabolism", "attributes": null }, { "code": "C305000", "description": "Histidinaemia", "attributes": null }, { "code": "C305100", "description": "Imidazole aminoaciduria", "attributes": null }, { "code": "C305200", "description": "Histidinuria", "attributes": null }, { "code": "C305y00", "description": "Other specified disturbance of histidine metabolism", "attributes": null }, { "code": "C305z00", "description": "Disturbance of histidine metabolism NOS", "attributes": null }, { "code": "C306.00", "description": "Disturbance of urea cycle metabolism", "attributes": null }, { "code": "C306000", "description": "Hyperornithinaemia", "attributes": null }, { "code": "C306100", "description": "Citrullinaemia", "attributes": null }, { "code": "C306200", "description": "Argininosuccinic aciduria", "attributes": null }, { "code": "C306300", "description": "Hyperargininaemia", "attributes": null }, { "code": "C306y00", "description": "Other specified disturbance of urea cycle metabolism", "attributes": null }, { "code": "C306z00", "description": "Disturbance of urea cycle metabolism NOS", "attributes": null }, { "code": "C307.00", "description": "Disturbance of other straight-chain amino-acid metabolism", "attributes": null }, { "code": "C307100", "description": "Disturbance of threonine metabolism", "attributes": null }, { "code": "C307200", "description": "Disturbance of serine metabolism", "attributes": null }, { "code": "C307300", "description": "Disturbance of glutamine metabolism", "attributes": null }, { "code": "C307400", "description": "Hyperlysinaemia", "attributes": null }, { "code": "C307500", "description": "Pipecolic acidaemia", "attributes": null }, { "code": "C307600", "description": "Saccharopinuria", "attributes": null }, { "code": "C307y00", "description": "Other specified disturbance of other straight-chain amino-acid metabolism", "attributes": null }, { "code": "C307y11", "description": "Methylmalonic acidaemia", "attributes": null }, { "code": "C307z00", "description": "Disturbance of other straight-chain amino-acid metabolism NOS", "attributes": null }, { "code": "C308.00", "description": "Disorders of fatty-acid metabolism", "attributes": null }, { "code": "C308000", "description": "Medium chain acyl-CoA dehydrogenase deficiency", "attributes": null }, { "code": "C308100", "description": "Multiple acyl-CoA dehydrogenase deficiencies", "attributes": null }, { "code": "C308200", "description": "X-linked adrenoleucodystrophy", "attributes": null }, { "code": "C309.00", "description": "Glutaryl CoA dehydrogenase deficiency", "attributes": null }, { "code": "C30A.00", "description": "Tryptophan malabsorption syndrome", "attributes": null }, { "code": "C30A.11", "description": "Blue diaper syndrome", "attributes": null }, { "code": "C30y.00", "description": "Disturbance of other specified amino-acid metabolism", "attributes": null }, { "code": "C30y000", "description": "Alaninaemia", "attributes": null }, { "code": "C30y100", "description": "Ethanolaminuria", "attributes": null }, { "code": "C30y300", "description": "Hydroxyprolinaemia", "attributes": null }, { "code": "C30y400", "description": "Hyperprolinaemia", "attributes": null }, { "code": "C30y600", "description": "Iminoacidopathy", "attributes": null }, { "code": "C30y700", "description": "Sarcosinaemia", "attributes": null }, { "code": "C30y800", "description": "Glutaric aciduria Type 1", "attributes": null }, { "code": "C30yy00", "description": "Other specified disturbance of amino-acid metabolism", "attributes": null }, { "code": "C30yz00", "description": "Disturbance of other specified amino-acid metabolism NOS", "attributes": null }, { "code": "C30z.00", "description": "Disturbance of amino-acid transport or metabolism NOS", "attributes": null }, { "code": "C310.00", "description": "Glycogenosis - glycogen storage disease", "attributes": null }, { "code": "C310000", "description": "McArdle's disease", "attributes": null }, { "code": "C310011", "description": "Myophosphorylase deficiency", "attributes": null }, { "code": "C310012", "description": "Glycogenosis, type 5", "attributes": null }, { "code": "C310100", "description": "Generalised glycogenosis", "attributes": null }, { "code": "C310.11", "description": "Amylopectinosis", "attributes": null }, { "code": "C310112", "description": "Pompe's disease", "attributes": null }, { "code": "C310113", "description": "Glycogenosis, type 2", "attributes": null }, { "code": "C310.13", "description": "Glycogen storage disease", "attributes": null }, { "code": "C310211", "description": "Von Gierke's disease", "attributes": null }, { "code": "C310300", "description": "Glycogenosis of liver and muscle", "attributes": null }, { "code": "C310311", "description": "Glycogenosis of liver and muscle", "attributes": null }, { "code": "C310400", "description": "Glycogenosis with hepatic cirrhosis", "attributes": null }, { "code": "C310411", "description": "Glycogenosis, type 4", "attributes": null }, { "code": "C310412", "description": "Andersen's disease", "attributes": null }, { "code": "C310y00", "description": "Other specified glycogenosis", "attributes": null }, { "code": "C310z00", "description": "Glycogenosis NOS", "attributes": null }, { "code": "C311.00", "description": "Galactosaemia", "attributes": null }, { "code": "C311000", "description": "Galactose-1-phosphate uridyl transferase deficiency", "attributes": null }, { "code": "C311100", "description": "Galactokinase deficiency", "attributes": null }, { "code": "C311y00", "description": "Other specified galactosaemia", "attributes": null }, { "code": "C311z00", "description": "Galactosaemia NOS", "attributes": null }, { "code": "C312.00", "description": "Hereditary fructose intolerance", "attributes": null }, { "code": "C312.11", "description": "Fructosaemia", "attributes": null }, { "code": "C314.00", "description": "Renal glycosuria", "attributes": null }, { "code": "C315.00", "description": "Disorders of pyruvate metabolism and gluconeogenesis", "attributes": null }, { "code": "C315000", "description": "Pyruvate dehydrogenase deficiency", "attributes": null }, { "code": "C31y000", "description": "Essential benign pentosuria", "attributes": null }, { "code": "C31y100", "description": "Fucosidosis", "attributes": null }, { "code": "C31y200", "description": "Oxalosis", "attributes": null }, { "code": "C31y300", "description": "Mannosidosis", "attributes": null }, { "code": "C31y400", "description": "Xylosuria", "attributes": null }, { "code": "C31y500", "description": "Primary oxaluria", "attributes": null }, { "code": "C31y600", "description": "Oxaluria NEC", "attributes": null }, { "code": "C31y700", "description": "Aspartylglucosaminuria", "attributes": null }, { "code": "C31y800", "description": "Glycerol kinase deficiency", "attributes": null }, { "code": "C31yX00", "description": "Disorder of glycoprotein metabolism, unspecified", "attributes": null }, { "code": "C320.00", "description": "Pure hypercholesterolaemia", "attributes": null }, { "code": "C320000", "description": "Familial hypercholesterolaemia", "attributes": null }, { "code": "C320100", "description": "Hyperbetalipoproteinaemia", "attributes": null }, { "code": "C320.11", "description": "Familial hypercholesterolaemia", "attributes": null }, { "code": "C320.12", "description": "Fredrickson type IIa lipidaemia", "attributes": null }, { "code": "C320.13", "description": "Low density lipoproteinaemia", "attributes": null }, { "code": "C320200", "description": "Hyperlipidaemia, group A", "attributes": null }, { "code": "C320300", "description": "Low-density-lipoprotein-type (LDL) hyperlipoproteinaemia", "attributes": null }, { "code": "C320400", "description": "Fredrickson's hyperlipoproteinaemia, type IIa", "attributes": null }, { "code": "C320500", "description": "Familial defective apolipoprotein B-100", "attributes": null }, { "code": "C320600", "description": "Polygenic hypercholesterolaemia", "attributes": null }, { "code": "C320y00", "description": "Other specified pure hypercholesterolaemia", "attributes": null }, { "code": "C320z00", "description": "Pure hypercholesterolaemia NOS", "attributes": null }, { "code": "C321.00", "description": "Pure hyperglyceridaemia", "attributes": null }, { "code": "C321000", "description": "Hypertriglyceridaemia", "attributes": null }, { "code": "C321.11", "description": "Fredrickson type IV lipidaemia", "attributes": null }, { "code": "C321.12", "description": "Very low density lipoprotinaemia", "attributes": null }, { "code": "C322000", "description": "Familial combined hyperlipidaemia", "attributes": null }, { "code": "C322.11", "description": "Fredrickson type IIb lipidaemia", "attributes": null }, { "code": "C322.12", "description": "Fredrickson type III lipidaemia", "attributes": null }, { "code": "C323.00", "description": "Hyperchylomicronaemia", "attributes": null }, { "code": "C323.11", "description": "Burger - Grute syndrome", "attributes": null }, { "code": "C323.13", "description": "Fredrickson type V lipaemia", "attributes": null }, { "code": "C325000", "description": "High density lipoid deficiency", "attributes": null }, { "code": "C327.00", "description": "Lipidoses", "attributes": null }, { "code": "C327100", "description": "Gaucher's disease", "attributes": null }, { "code": "C327.11", "description": "Anderson's disease", "attributes": null }, { "code": "C327.12", "description": "Fabry's disease", "attributes": null }, { "code": "C327.13", "description": "Pseudo - Hurler's disease", "attributes": null }, { "code": "C327200", "description": "Niemann-Pick disease", "attributes": null }, { "code": "C327300", "description": "Wolman disease", "attributes": null }, { "code": "C327311", "description": "Primary familial xanthomatosis", "attributes": null }, { "code": "C327400", "description": "Alpha-galactosidase A deficiency", "attributes": null }, { "code": "C327411", "description": "Fabry's disease", "attributes": null }, { "code": "C327412", "description": "Anderson's disease", "attributes": null }, { "code": "C327413", "description": "Anderson-Fabry disease", "attributes": null }, { "code": "C327z00", "description": "Lipidoses NOS", "attributes": null }, { "code": "C329.00", "description": "Hypercholesterolaemia", "attributes": null }, { "code": "C33y000", "description": "Hypoproteinaemia", "attributes": null }, { "code": "C351.00", "description": "Disorders of copper metabolism", "attributes": null }, { "code": "C351000", "description": "Hepatolenticular degeneration (Wilson's disease)", "attributes": null }, { "code": "C351011", "description": "Wilson's disease", "attributes": null }, { "code": "C351z00", "description": "Disorder of copper metabolism NOS", "attributes": null }, { "code": "C371.00", "description": "Disorders of porphyrin metabolism", "attributes": null }, { "code": "C371000", "description": "Congenital porphyria", "attributes": null }, { "code": "C371100", "description": "Erythropoietic protoporphyria", "attributes": null }, { "code": "C371200", "description": "Acute intermittent porphyria", "attributes": null }, { "code": "C371300", "description": "Protocoproporphyria", "attributes": null }, { "code": "C371400", "description": "Porphyria cutanea tarda", "attributes": null }, { "code": "C371500", "description": "Coproporphyria", "attributes": null }, { "code": "C371600", "description": "Pseudoporphyria", "attributes": null }, { "code": "C371z00", "description": "Porphyria NOS", "attributes": null }, { "code": "C372.00", "description": "Other disorders of purine and pyrimidine metabolism", "attributes": null }, { "code": "C372000", "description": "Hypoxanthine-guanine-phosphoribosyltransferase deficiency", "attributes": null }, { "code": "C372011", "description": "Lesch - Nyhan syndrome", "attributes": null }, { "code": "C372100", "description": "Xanthinuria", "attributes": null }, { "code": "C372.11", "description": "Lesch - Nyhan syndrome", "attributes": null }, { "code": "C372300", "description": "Lesch-Nyhan syndrome", "attributes": null }, { "code": "C372z00", "description": "Other disorder of purine or pyrimidine metabolism NOS", "attributes": null }, { "code": "C373.00", "description": "Amyloidosis", "attributes": null }, { "code": "C373000", "description": "Sporadic primary amyloidosis", "attributes": null }, { "code": "C373100", "description": "Familial Mediterranean fever", "attributes": null }, { "code": "C373111", "description": "Familial periodic peritonitis", "attributes": null }, { "code": "C373112", "description": "Recurrent polyserositis", "attributes": null }, { "code": "C373200", "description": "Familial neuropathic amyloid", "attributes": null }, { "code": "C373300", "description": "Familial cardiac amyloid", "attributes": null }, { "code": "C373411", "description": "Muckle-Wells syndrome", "attributes": null }, { "code": "C373412", "description": "Amyloid nephropathy with deafness and urticaria", "attributes": null }, { "code": "C373600", "description": "Nephropathic amyloidosis", "attributes": null }, { "code": "C373700", "description": "Primary amyloidosis NEC", "attributes": null }, { "code": "C373800", "description": "Familial periodic fever", "attributes": null }, { "code": "C373900", "description": "Organ limited non-hereditary amyloidosis", "attributes": null }, { "code": "C373A00", "description": "Hereditary periodic fever", "attributes": null }, { "code": "C373B00", "description": "Tumor necrosis factor receptor associated periodic syndrome", "attributes": null }, { "code": "C373C00", "description": "AL amyloidosis", "attributes": null }, { "code": "C373D00", "description": "Senile systemic amyloidosis", "attributes": null }, { "code": "C373E00", "description": "Amyloid polyneuropathy type I", "attributes": null }, { "code": "C373E11", "description": "Swedish type amyloid polyneuropathy", "attributes": null }, { "code": "C373E12", "description": "Andrade type amyloid polyneuropathy", "attributes": null }, { "code": "C373F00", "description": "Familial amyloid polyneuropathy type II", "attributes": null }, { "code": "C373F11", "description": "Swiss type amyloid polyneuropathy", "attributes": null }, { "code": "C373G00", "description": "Senile cardiac amyloidosis", "attributes": null }, { "code": "C373H00", "description": "Amyloid A amyloidosis", "attributes": null }, { "code": "C373J00", "description": "Beta-2 microglobulin amyloidosis", "attributes": null }, { "code": "C373K00", "description": "Familial amyloid polyneuropathy, Iowa type", "attributes": null }, { "code": "C373K11", "description": "Van Allen type amyloid polyneuropathy", "attributes": null }, { "code": "C373K12", "description": "British type amyloid polyneuropathy", "attributes": null }, { "code": "C373K13", "description": "Familial amyloid polyneuropathy type III", "attributes": null }, { "code": "C373L00", "description": "Amyloid nephropathy of Ostertag", "attributes": null }, { "code": "C373X00", "description": "Heredofamilial amyloidosis, unspecified", "attributes": null }, { "code": "C373y00", "description": "Other specified amyloidosis", "attributes": null }, { "code": "C373z00", "description": "Amyloidosis NOS", "attributes": null }, { "code": "C375.00", "description": 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"attributes": null }, { "code": "C375.17", "description": "Osteochondrodystrophy", "attributes": null }, { "code": "C375.18", "description": "Sanfilippo's syndrome", "attributes": null }, { "code": "C375.19", "description": "Scheie's syndrome", "attributes": null }, { "code": "C375.1A", "description": "Dysostosis multiplex", "attributes": null }, { "code": "C375200", "description": "Mucopolysaccharidosis, type II", "attributes": null }, { "code": "C375211", "description": "Hunter's syndrome", "attributes": null }, { "code": "C375300", "description": "Mucopolysaccharidosis, type III", "attributes": null }, { "code": "C375311", "description": "Sanfilippo syndrome", "attributes": null }, { "code": "C375400", "description": "Mucopolysaccharidosis, type IV", "attributes": null }, { "code": "C375411", "description": "Morquio - Brailsford syndrome", "attributes": null }, { "code": "C375600", "description": "Mucopolysaccharidosis, type VI", "attributes": null }, { "code": "C375611", "description": "Maroteaux - Lamy syndrome", "attributes": null }, { "code": "C375700", "description": "Mucopolysaccharidosis, type VII", "attributes": null }, { "code": "C375711", "description": "Beta-glucuronidase deficiency", "attributes": null }, { "code": "C375712", "description": "Sly syndrome", "attributes": null }, { "code": "C375800", "description": "Multiple sulphatase deficiency", "attributes": null }, { "code": "C375X00", "description": "Disorder of glucosaminoglycan metabolism, unspecified", "attributes": null }, { "code": "C375y00", "description": "Other specified mucopolysaccharidosis", "attributes": null }, { "code": "C375z00", "description": "Mucopolysaccharidosis NOS", "attributes": null }, { "code": "C376100", "description": "Alpha-1-antitrypsin hepatitis", "attributes": null }, { "code": "C376200", "description": "Alpha-1-antitrypsin deficiency", "attributes": null }, { "code": "C377.00", "description": "Disorders of glycoprotein metabolism", "attributes": null }, { "code": "C377100", "description": "Mucolipidosis type III", "attributes": null }, { "code": "C377111", "description": "Pseudo - Hurler's disease", "attributes": null }, { "code": "Cyu8100", "description": "[X]Other disorders of aromatic amino-acid metabolism", "attributes": null }, { "code": "Cyu8200", "description": "[X]Other disorders of branched-chain amino-acid metabolism", "attributes": null }, { "code": "Cyu8300", "description": "[X]Other specified disorders of amino-acid metabolism", "attributes": null }, { "code": "Cyu8700", "description": "[X]Other gangliosidosis", "attributes": null }, { "code": "Cyu8800", "description": "[X]Other sphingolipidosis", "attributes": null }, { "code": "Cyu8900", "description": "[X]Other lipid storage disorders", "attributes": null }, { "code": "Cyu8A00", "description": "[X]Other mucopolysaccharidoses", "attributes": null }, { "code": "Cyu8B00", "description": "[X]Other disorders of glucosaminoglycan metabolism", "attributes": null }, { "code": 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null }, { "code": "F427K11", "description": "Lipofuscinosis NEC", "attributes": null }, { "code": "F435800", "description": "Generalised gyrate choroid atrophy", "attributes": null }, { "code": "F4C5700", "description": "Conjunctival amyloidosis", "attributes": null }, { "code": "F4K2F00", "description": "Amyloid of vitreous", "attributes": null }, { "code": "F4K2F11", "description": "Vitreous amyloid", "attributes": null }, { "code": "Fyu8800", "description": "[X]Myopathy in metabolic diseases classified elsewhere", "attributes": null }, { "code": "G557000", "description": "Amyloid heart disease", "attributes": null }, { "code": "G557011", "description": "Cardiac amyloidosis", "attributes": null }, { "code": "G557200", "description": "Cardiac glycogenosis", "attributes": null }, { "code": "G557400", "description": "Mucopolysaccharidosis cardiomyopathy", "attributes": null }, { "code": "G674000", "description": "Cerebral amyloid angiopathy", "attributes": null }, { "code": "H57y000", 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"Deficiency of adenosine kinase (disorder)", "attributes": null }, { "code": "124319004", "description": "Deficiency of riboflavin kinase (disorder)", "attributes": null }, { "code": "124322002", "description": "Deficiency of glycerol kinase (disorder)", "attributes": null }, { "code": "124326004", "description": "Deficiency of pyridoxal kinase (disorder)", "attributes": null }, { "code": "124327008", "description": "Deficiency of mevalonate kinase (disorder)", "attributes": null }, { "code": "124329006", "description": "Deficiency of phosphorylase kinase (disorder)", "attributes": null }, { "code": "124330001", "description": "Deficiency of homoserine kinase (disorder)", "attributes": null }, { "code": "124331002", "description": "Deficiency of pyruvate kinase (disorder)", "attributes": null }, { "code": "124332009", "description": "Deficiency of glucose-1-phosphate phosphodismutase (disorder)", "attributes": null }, { "code": "124333004", "description": "Deficiency of acetate kinase 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"description": "Deficiency of succinyl-coenzyme A hydrolase (disorder)", "attributes": null }, { "code": "124438009", "description": "Deficiency of glucose-1-phosphatase (disorder)", "attributes": null }, { "code": "124439001", "description": "Deficiency of fructose-bisphosphatase (disorder)", "attributes": null }, { "code": "124464003", "description": "Deficiency of alpha-galactosidase (disorder)", "attributes": null }, { "code": "124465002", "description": "Deficiency of beta-galactosidase (disorder)", "attributes": null }, { "code": "124531001", "description": "Deficiency of adenosinetriphosphatase (disorder)", "attributes": null }, { "code": "124534009", "description": "Deficiency of adenosine triphosphate pyrophosphatase (disorder)", "attributes": null }, { "code": "124536006", "description": "Deficiency of fumarylacetoacetase (disorder)", "attributes": null }, { "code": "124539004", "description": "Deficiency of phosphoamidase (disorder)", "attributes": null }, { "code": "124543000", "description": "Deficiency of thiolester hydrolase (disorder)", "attributes": null }, { "code": "124549001", "description": "Deficiency of triphosphoric monoester hydrolase (disorder)", "attributes": null }, { "code": "124557003", "description": "Deficiency of nucleosidase (disorder)", "attributes": null }, { "code": "124559000", "description": "Deficiency of thioether hydrolase (disorder)", "attributes": null }, { "code": "124561009", "description": "Deficiency of ether hydrolase (disorder)", "attributes": null }, { "code": "124563007", "description": "Deficiency of peptide hydrolase (disorder)", "attributes": null }, { "code": "124577005", "description": "Deficiency of endoribonuclease (disorder)", "attributes": null }, { "code": "124579008", "description": "Deficiency of metallocarboxypeptidase (disorder)", "attributes": null }, { "code": "124583008", "description": "Deficiency of omega peptidase (disorder)", "attributes": null }, { "code": "124585001", "description": 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"303098002", "description": "3-Phosphoglycerate dehydrogenase deficiency (disorder)", "attributes": null }, { "code": "303852004", "description": "Lysinuric protein intolerance (disorder)", "attributes": null }, { "code": "30529005", "description": "Citrullinemia, neonatal type (disorder)", "attributes": null }, { "code": "307127004", "description": "Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency (disorder)", "attributes": null }, { "code": "307128009", "description": "Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder)", "attributes": null }, { "code": "307130006", "description": "3-Ketoacyl-coenzyme A triolase deficiency (disorder)", "attributes": null }, { "code": "30884007", "description": "Restrictive cardiomyopathy secondary to familial storage disease (disorder)", "attributes": null }, { "code": "311495006", "description": "Amyloid disease of the urethra (disorder)", "attributes": null }, { "code": "31220004", "description": "Cobalamin D 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null }, { "code": "360373000", "description": "Homocystinuria vitamin B12-responsive type III (disorder)", "attributes": null }, { "code": "360376008", "description": "Functional defects of methionine synthase (disorder)", "attributes": null }, { "code": "360378009", "description": "Homogentisate 1,2-dioxygenase deficiency (disorder)", "attributes": null }, { "code": "360410009", "description": "Hepatic tyrosine aminotransferase deficiency (disorder)", "attributes": null }, { "code": "360416003", "description": "Glutaryl-coenzyme A dehydrogenase deficiency (disorder)", "attributes": null }, { "code": "360745000", "description": "Deficiency of long-chain fatty-acyl-coenzyme A hydrolase (disorder)", "attributes": null }, { "code": "360822002", "description": "Deficiency of sulfatase (disorder)", "attributes": null }, { "code": "360834005", "description": "Deficiency of arylsulfatase (disorder)", "attributes": null }, { "code": "360943000", "description": "Deficiency of carnosinase 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