Item | Property | Value | Comments |
---|
include | http://snomed.info/sct | | |
Concept | 267454002 | Acatalasemia (disorder) | |
Concept | 238069004 | Acyl-coenzyme A oxidase deficiency (disorder) | |
Concept | 363732003 | Addison's disease (disorder) | |
Concept | 386584007 | Adrenal cortical hypofunction (disorder) | |
Concept | 237735008 | Adrenal Cushing's syndrome (disorder) | |
Concept | 65389002 | Adrenoleukodystrophy (disorder) | |
Concept | 700463002 | Alpha-methylacyl-CoA racemase deficiency disorder (disorder) | |
Concept | 54954004 | Aspartylglucosaminuria (disorder) | |
Concept | 238068007 | Bifunctional peroxisomal enzyme deficiency (disorder) | |
Concept | 128289001 | Chronic metabolic disorder (disorder) | |
Concept | 7573000 | Classical phenylketonuria (disorder) | |
Concept | 35691006 | Combined deficiency of sialidase AND beta galactosidase (disorder) | |
Concept | 237751000 | Congenital adrenal hyperplasia (disorder) | |
Concept | 419097006 | Danon disease (disorder) | |
Concept | 124302001 | Deficiency of galactokinase (disorder) | |
Concept | 124437004 | Deficiency of glucose-6-phosphatase (disorder) | |
Concept | 124335006 | Deficiency of phosphoglycerate kinase (disorder) | |
Concept | 124675005 | Deficiency of phosphoglycerate mutase (disorder) | |
Concept | 387817006 | Deficiency of phosphorylase b kinase (disorder) | |
Concept | 124329006 | Deficiency of phosphorylase kinase (disorder) | |
Concept | 46635009 | Diabetes mellitus type 1 (disorder) | |
Concept | 44054006 | Diabetes mellitus type 2 (disorder) | |
Concept | 73211009 | Diabetes mellitus (disorder) | |
Concept | 45744005 | Disorder of mineral metabolism (disorder) | |
Concept | 238059005 | Disorder of peroxisomal function (disorder) | |
Concept | 238006008 | Disorder of purine and pyrimidine metabolism (disorder) | |
Concept | 30171000 | Disorder of adrenal gland (disorder) | |
Concept | 73132005 | Disorder of parathyroid gland (disorder) | |
Concept | 399244003 | Disorder of pituitary gland (disorder) | |
Concept | 190680002 | Disorders of amino acid transport and metabolism (disorder) | |
Concept | 16652001 | Fabry's disease (disorder) | |
Concept | 79935000 | Farber's lipogranulomatosis (disorder) | |
Concept | 717276003 | Folinic acid responsive seizure syndrome (disorder) | |
Concept | 20052008 | Fructose-1,6-bisphosphate aldolase B deficiency (disorder) | |
Concept | 28183005 | Fructose-biphosphatase deficiency (disorder) | |
Concept | 190745006 | Galactosemia (disorder) | |
Concept | 192782005 | Galactosylceramide beta-galactosidase deficiency (disorder) | |
Concept | 190794006 | Glucosylceramide beta-glucosidase deficiency (disorder) | |
Concept | 235908005 | Glycogen storage disease type IX (disorder) | |
Concept | 41527003 | Glycogen storage disease type VIII (disorder) | |
Concept | 37666005 | Glycogen storage disease type X (disorder) | |
Concept | 717821004 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) | |
Concept | 7265005 | Glycogen storage disease, type I (disorder) | |
Concept | 274864009 | Glycogen storage disease, type II (disorder) | |
Concept | 66937008 | Glycogen storage disease, type III (disorder) | |
Concept | 11179002 | Glycogen storage disease, type IV (disorder) | |
Concept | 55912009 | Glycogen storage disease, type V (disorder) | |
Concept | 29291001 | Glycogen storage disease, type VI (disorder) | |
Concept | 89597008 | Glycogen storage disease, type VII (disorder) | |
Concept | 237964009 | Glycogen synthase deficiency (disorder) | |
Concept | 61598006 | Glycogenosis with glucoaminophosphaturia (disorder) | |
Concept | 238025006 | GM1 gangliosidosis (disorder) | |
Concept | 353295004 | Graves' disease (disorder) | |
Concept | 21983002 | Hashimoto thyroiditis (disorder) | |
Concept | 111578003 | Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder) | |
Concept | 66999008 | Hyperparathyroidism (disorder) | |
Concept | 10649000 | Hyperpituitarism (disorder) | |
Concept | 34486009 | Hyperthyroidism (disorder) | |
Concept | 36976004 | Hypoparathyroidism (disorder) | |
Concept | 74728003 | Hypopituitarism (disorder) | |
Concept | 40930008 | Hypothyroidism (disorder) | |
Concept | 70199000 | I-cell disease (disorder) | |
Concept | 86095007 | Inborn error of metabolism (disorder) | |
Concept | 238062008 | Infantile Refsum's disease (disorder) | |
Concept | 18756002 | Juvenile GM1 gangliosidosis (disorder) | |
Concept | 65524005 | Mannosidosis (disorder) | |
Concept | 27718001 | Maple syrup urine disease (disorder) | |
Concept | 69463008 | Maroteaux-Lamy syndrome (disorder) | |
Concept | 237602007 | Metabolic syndrome X (disorder) | |
Concept | 396338004 | Metachromatic leucodystrophy (disorder) | |
Concept | 725296006 | Mucolipidosis type IV (disorder) | |
Concept | 75610003 | Mucopolysaccharidosis type I (disorder) | |
Concept | 65327002 | Mucopolysaccharidosis type I-H (disorder) | |
Concept | 26745009 | Mucopolysaccharidosis type I-H/S (disorder) | |
Concept | 70737009 | Mucopolysaccharidosis type II (disorder) | |
Concept | 73123008 | Mucopolysaccharidosis type I-S (disorder) | |
Concept | 43916004 | Mucopolysaccharidosis type VII (disorder) | |
Concept | 378007 | Morquio syndrome (disorder) | |
Concept | 238061001 | Neonatal adrenoleucodystrophy (disorder) | |
Concept | 783717008 | Phosphoglucomutase 1-related congenital disorder of glycosylation (disorder) | |
Concept | 5335002 | Phosphoenolpyruvate carboxykinase deficiency (disorder) | |
Concept | 25362006 | Phytanic acid storage disease (disorder) | |
Concept | 65520001 | Primary hyperoxaluria, type I (disorder) | |
Concept | 65764006 | Pseudo-Hurler polydystrophy (disorder) | |
Concept | 734434007 | Pyridoxine-dependent epilepsy (disorder) | |
Concept | 46683007 | Pyruvate dehydrogenase complex deficiency (disorder) | |
Concept | 23849003 | Sandhoff disease (disorder) | |
Concept | 88393000 | Sanfilippo syndrome (disorder) | |
Concept | 38795005 | Sialidosis (disorder) | |
Concept | 58459009 | Sphingomyelin/cholesterol lipidosis (disorder) | |
Concept | 34420000 | Storage disease (disorder) | |
Concept | 367368009 | Sulfite oxidase deficiency (disorder) | |
Concept | 111385000 | Tay-Sachs disease (disorder) | |
Concept | 264580006 | Thyroid dysfunction (disorder) | |
Concept | 8849004 | Uridine diphosphate glucose-4-epimerase deficiency (disorder) | |
Concept | 88469006 | Zellweger syndrome (disorder) | |
Code | Display | Comments |
---|
267454002 | Acatalasemia | |
238069004 | Acyl-CoA oxidase deficiency | |
363732003 | Addison's disease | |
386584007 | Adrenal cortical hypofunction (disorder) | |
237735008 | Adrenal Cushing's syndrome | |
65389002 | Adrenoleukodystrophy | |
700463002 | Alpha-methylacyl-CoA racemase deficiency disorder | |
54954004 | Aspartylglucosaminuria | |
238068007 | Bifunctional peroxisomal enzyme deficiency | |
128289001 | Chronic metabolic disease | |
7573000 | Classical phenylketonuria | |
35691006 | Combined deficiency of sialidase AND beta galactosidase | |
237751000 | Congenital adrenal hyperplasia | |
419097006 | Danon disease (disorder) | |
124302001 | Deficiency of galactokinase | |
124437004 | Deficiency of glucose-6-phosphatase | |
124335006 | Deficiency of phosphoglycerate kinase | |
124675005 | Deficiency of phosphoglyceromutase | |
387817006 | Deficiency of phosphorylase b kinase | |
124329006 | Deficiency of dephosphophosphorylase kinase | |
46635009 | Diabetes mellitus type I | |
44054006 | Diabetes mellitus type II | |
73211009 | Diabetes mellitus | |
45744005 | Disorder of mineral metabolism | |
238059005 | Disorder of peroxisomal function | |
238006008 | Disorder of purine and pyrimidine metabolism | |
30171000 | Disorder of adrenal gland | |
73132005 | Disorder of parathyroid glands | |
399244003 | Pituitary disease | |
190680002 | Disorders of amino acid transport and metabolism | |
16652001 | Fabry's disease | |
79935000 | Farber's lipogranulomatosis | |
717276003 | Folinic acid responsive seizure syndrome (disorder) | |
20052008 | Hereditary fructosuria | |
28183005 | Fructose-biphosphatase deficiency | |
190745006 | Galactosemia | |
192782005 | Galactosylceramide beta-galactosidase deficiency | |
190794006 | Gaucher's disease | |
235908005 | Glycogen phosphorylase kinase deficiency | |
41527003 | Glycogen storage disease type VIII | |
37666005 | Glycogen storage disease type X | |
717821004 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (disorder) | |
7265005 | Glycogen storage disease, type I | |
274864009 | Glycogen heart disease | |
66937008 | Glycogen storage disease, type III | |
11179002 | Glycogen storage disease, type IV | |
55912009 | Glycogen storage disease, type V | |
29291001 | Glycogen storage disease, type VI | |
89597008 | Glycogen storage disease, type VII | |
237964009 | Glycogen synthase deficiency | |
61598006 | Glycogenosis with glucoaminophosphaturia | |
238025006 | GM1 gangliosidosis | |
353295004 | Graves' disease | |
21983002 | Hashimoto thyroiditis | |
111578003 | Fructose 1,6-biphosphate aldolase A deficiency | |
66999008 | Hyperparathyroidism | |
10649000 | Hyperpituitarism | |
34486009 | Hyperthyroidism | |
36976004 | Hypoparathyroidism | |
74728003 | Hypopituitarism | |
40930008 | Hypothyroidism | |
70199000 | I-cell disease | |
86095007 | Inborn error of metabolism | |
238062008 | Infantile Refsum's disease | |
18756002 | GM1 Gangliosidosis type II | |
65524005 | Mannosidosis | |
27718001 | Maple syrup urine disease | |
69463008 | Maroteaux-Lamy syndrome | |
237602007 | Metabolic syndrome X | |
396338004 | Metachromatic leucodystrophy (disorder) | |
725296006 | Mucolipidosis type IV (disorder) | |
75610003 | Mucopolysaccharidosis, MPS-I | |
65327002 | Mucopolysaccharidosis, MPS-I-H | |
26745009 | Mucopolysaccharidosis, MPS-I-H/S | |
70737009 | Mucopolysaccharidosis, MPS-II | |
73123008 | Mucopolysaccharidosis, MPS-I-S | |
43916004 | Mucopolysaccharidosis, MPS-VII | |
378007 | Morquio syndrome | |
238061001 | Neonatal adrenoleucodystrophy | |
783717008 | PGM1-related congenital disorder of glycosylation | |
5335002 | Phosphoenolpyruvate carboxykinase (GTP) deficiency | |
25362006 | Phytanic acid storage disease | |
65520001 | Primary hyperoxaluria, type I | |
65764006 | Pseudo-Hurler polydystrophy | |
734434007 | Pyridoxine-dependent epilepsy (disorder) | |
46683007 | Pyruvate dehydrogenase complex deficiency | |
23849003 | Sandhoff disease | |
88393000 | Sanfilippo syndrome | |
38795005 | Sialidosis | |
58459009 | Sphingomyelin/cholesterol lipidosis | |
34420000 | Storage disease | |
367368009 | Sulfite oxidase deficiency | |
111385000 | Tay-Sachs disease | |
264580006 | Thyroid dysfunction | |
8849004 | UDPglucose-4-epimerase deficiency | |
88469006 | Zellweger syndrome | |