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) |