| Code | Display |
| 267454002 | Acatalasemia (disorder) |
| 238069004 | Acyl-coenzyme A oxidase deficiency (disorder) |
| 363732003 | Addison's disease (disorder) |
| 386584007 | Adrenal cortical hypofunction (disorder) |
| 237735008 | Adrenal Cushing's syndrome (disorder) |
| 65389002 | Adrenoleukodystrophy (disorder) |
| 700463002 | Alpha-methylacyl-CoA racemase deficiency disorder (disorder) |
| 54954004 | Aspartylglucosaminuria (disorder) |
| 238068007 | Bifunctional peroxisomal enzyme deficiency (disorder) |
| 128289001 | Chronic metabolic disorder (disorder) |
| 7573000 | Classical phenylketonuria (disorder) |
| 35691006 | Combined deficiency of sialidase AND beta galactosidase (disorder) |
| 237751000 | Congenital adrenal hyperplasia (disorder) |
| 419097006 | Danon disease (disorder) |
| 124302001 | Deficiency of galactokinase (disorder) |
| 124437004 | Deficiency of glucose-6-phosphatase (disorder) |
| 124335006 | Deficiency of phosphoglycerate kinase (disorder) |
| 124675005 | Deficiency of phosphoglycerate mutase (disorder) |
| 387817006 | Deficiency of phosphorylase b kinase (disorder) |
| 124329006 | Deficiency of phosphorylase kinase (disorder) |
| 46635009 | Diabetes mellitus type 1 (disorder) |
| 44054006 | Diabetes mellitus type 2 (disorder) |
| 73211009 | Diabetes mellitus (disorder) |
| 45744005 | Disorder of mineral metabolism (disorder) |
| 238059005 | Disorder of peroxisomal function (disorder) |
| 238006008 | Disorder of purine and pyrimidine metabolism (disorder) |
| 30171000 | Disorder of adrenal gland (disorder) |
| 73132005 | Disorder of parathyroid gland (disorder) |
| 399244003 | Disorder of pituitary gland (disorder) |
| 190680002 | Disorders of amino acid transport and metabolism (disorder) |
| 16652001 | Fabry's disease (disorder) |
| 79935000 | Farber's lipogranulomatosis (disorder) |
| 717276003 | Folinic acid responsive seizure syndrome (disorder) |
| 20052008 | Fructose-1,6-bisphosphate aldolase B deficiency (disorder) |
| 28183005 | Fructose-biphosphatase deficiency (disorder) |
| 190745006 | Galactosemia (disorder) |
| 192782005 | Galactosylceramide beta-galactosidase deficiency (disorder) |
| 190794006 | Glucosylceramide beta-glucosidase deficiency (disorder) |
| 235908005 | Glycogen storage disease type IX (disorder) |
| 41527003 | Glycogen storage disease type VIII (disorder) |
| 37666005 | Glycogen storage disease type X (disorder) |
| 717821004 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) |
| 7265005 | Glycogen storage disease, type I (disorder) |
| 274864009 | Glycogen storage disease, type II (disorder) |
| 66937008 | Glycogen storage disease, type III (disorder) |
| 11179002 | Glycogen storage disease, type IV (disorder) |
| 55912009 | Glycogen storage disease, type V (disorder) |
| 29291001 | Glycogen storage disease, type VI (disorder) |
| 89597008 | Glycogen storage disease, type VII (disorder) |
| 237964009 | Glycogen synthase deficiency (disorder) |
| 61598006 | Glycogenosis with glucoaminophosphaturia (disorder) |
| 238025006 | GM1 gangliosidosis (disorder) |
| 353295004 | Graves' disease (disorder) |
| 21983002 | Hashimoto thyroiditis (disorder) |
| 111578003 | Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) |
| 66999008 | Hyperparathyroidism (disorder) |
| 10649000 | Hyperpituitarism (disorder) |
| 34486009 | Hyperthyroidism (disorder) |
| 36976004 | Hypoparathyroidism (disorder) |
| 74728003 | Hypopituitarism (disorder) |
| 40930008 | Hypothyroidism (disorder) |
| 70199000 | I-cell disease (disorder) |
| 86095007 | Inborn error of metabolism (disorder) |
| 238062008 | Infantile Refsum's disease (disorder) |
| 18756002 | Juvenile GM1 gangliosidosis (disorder) |
| 65524005 | Mannosidosis (disorder) |
| 27718001 | Maple syrup urine disease (disorder) |
| 69463008 | Maroteaux-Lamy syndrome (disorder) |
| 237602007 | Metabolic syndrome X (disorder) |
| 396338004 | Metachromatic leucodystrophy (disorder) |
| 725296006 | Mucolipidosis type IV (disorder) |
| 75610003 | Mucopolysaccharidosis type I (disorder) |
| 65327002 | Mucopolysaccharidosis type I-H (disorder) |
| 26745009 | Mucopolysaccharidosis type I-H/S (disorder) |
| 70737009 | Mucopolysaccharidosis type II (disorder) |
| 73123008 | Mucopolysaccharidosis type I-S (disorder) |
| 43916004 | Mucopolysaccharidosis type VII (disorder) |
| 378007 | Morquio syndrome (disorder) |
| 238061001 | Neonatal adrenoleucodystrophy (disorder) |
| 783717008 | Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) |
| 5335002 | Phosphoenolpyruvate carboxykinase deficiency (disorder) |
| 25362006 | Phytanic acid storage disease (disorder) |
| 65520001 | Primary hyperoxaluria, type I (disorder) |
| 65764006 | Pseudo-Hurler polydystrophy (disorder) |
| 734434007 | Pyridoxine-dependent epilepsy (disorder) |
| 46683007 | Pyruvate dehydrogenase complex deficiency (disorder) |
| 23849003 | Sandhoff disease (disorder) |
| 88393000 | Sanfilippo syndrome (disorder) |
| 38795005 | Sialidosis (disorder) |
| 58459009 | Sphingomyelin/cholesterol lipidosis (disorder) |
| 34420000 | Storage disease (disorder) |
| 367368009 | Sulfite oxidase deficiency (disorder) |
| 111385000 | Tay-Sachs disease (disorder) |
| 264580006 | Thyroid dysfunction (disorder) |
| 8849004 | Uridine diphosphate glucose-4-epimerase deficiency (disorder) |
| 88469006 | Zellweger syndrome (disorder) |