JavaScript is NOT enabled !

Please enable JavaScript.

Metabolism, Inborn Errors [vrozené poruchy metabolismu]

topical

711

Terms: dědičné metabolické poruchy
dědičné poruchy metabolismu
metabolismus - vrozené poruchy
vrozené metabolické poruchy

: Inborn Errors of Metabolism
Metabolism Errors, Inborn

Persistent link https://www.medvik.cz/link/D008661

Definition

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Annotation: general or unspecified; prefer specific types; differentiate from DEFICIENCY DISEASES

DUI: D008661 MeSH Browser
CUI: M0013496
History note: 65
Public note: 65

Allowable subheadings

... Occurrences in Medvik records

C Diseases

C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439

C16.320 Genetic Diseases, Inborn 1 213

C16.320.033 Adrenal Hyperplasia, Congenital 225

C16.320.051 Alagille Syndrome 19

C16.320.060 alpha 1-Antitrypsin Deficiency 83

C16.320.070 Anemia, Hemolytic, Congenital 48

C16.320.077 Anemia, Hypoplastic, Congenital 3

C16.320.080 Ataxia Telangiectasia 47

C16.320.089 Autoimmune Lymphoproliferative Syndrome 2

C16.320.099 Blood Coagulation Disorders, Inherited 61

C16.320.100 Brugada Syndrome 40

C16.320.129 CADASIL 8

C16.320.144 Camurati-Engelmann Syndrome 6

C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32

C16.320.165 CHARGE Syndrome 1

C16.320.170 Cherubism 1

C16.320.180 Chromosome Disorders 259

C16.320.184 Ciliopathies 9

C16.320.188 Costello Syndrome 3

C16.320.190 Cystic Fibrosis 1 328

C16.320.215 Donohue Syndrome 1

C16.320.240 Dwarfism 97

C16.320.290 Eye Diseases, Hereditary 57

C16.320.298 Familial Multiple Lipomatosis

C16.320.306 Frasier Syndrome

C16.320.314 GATA2 Deficiency 1

C16.320.322 Genetic Diseases, X-Linked 59

C16.320.338 Genetic Diseases, Y-Linked 1

C16.320.355 Hajdu-Cheney Syndrome 6

C16.320.365 Hemoglobinopathies 68

C16.320.382 Hereditary Autoinflammatory Diseases 46

C16.320.400 Heredodegenerative Disorders, Nervous System 45

C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4

C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1

C16.320.447 Imprinting Disorders

C16.320.467 Kallmann Syndrome 10

C16.320.480 Kartagener Syndrome 46

C16.320.488 Laminopathies 2

C16.320.495 Lennox Gastaut Syndrome 5

C16.320.510 Loeys-Dietz Syndrome 7

C16.320.540 Marfan Syndrome 105

C16.320.565 Metabolism, Inborn Errors 711

C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124

C16.320.565.151 Amino Acid Transport Disorders, Inborn 1

C16.320.565.176 Amyloidosis, Familial 16

C16.320.565.189 Brain Diseases, Metabolic, Inborn 26

C16.320.565.202 Carbohydrate Metabolism, Inborn Errors 36

C16.320.565.240 Cytochrome-c Oxidase Deficiency 27

C16.320.565.300 Hyperbilirubinemia, Hereditary 35

C16.320.565.398 Lipid Metabolism, Inborn Errors 154

C16.320.565.595 Lysosomal Storage Diseases 72

C16.320.565.618 Metal Metabolism, Inborn Errors 16

C16.320.565.663 Peroxisomal Disorders 20

C16.320.565.753 Progeria 27

C16.320.565.798 Purine-Pyrimidine Metabolism, Inborn Errors 40

C16.320.565.893 Renal Tubular Transport, Inborn Errors 36

C16.320.565.925 Steroid Metabolism, Inborn Errors 7

C16.320.577 Muscular Dystrophies 140

C16.320.590 Myasthenic Syndromes, Congenital 20

C16.320.600 Nail-Patella Syndrome 8

C16.320.700 Neoplastic Syndromes, Hereditary 143

C16.320.709 Oculocerebrorenal Syndrome 9

C16.320.714 Orofaciodigital Syndromes 7

C16.320.718 Osteoarthropathy, Primary Hypertrophic 127

C16.320.728 Osteochondrodysplasias 123

C16.320.737 Osteogenesis Imperfecta 106

C16.320.775 Pain Insensitivity, Congenital 10

C16.320.784 Pelger-Huet Anomaly 7

C16.320.798 Primary Immunodeficiency Diseases 45

C16.320.812 Pycnodysostosis 2

C16.320.831 Renal Tubular Transport, Inborn Errors 36

C16.320.850 Skin Diseases, Genetic 89

C16.320.925 Werner Syndrome 14

C16.320.962 Yellow Nail Syndrome

C18 Nutritional and Metabolic Diseases 172

C18.452 Metabolic Diseases 1 196

C18.452.076 Acid-Base Imbalance 287

C18.452.104 Bone Diseases, Metabolic 430

C18.452.132 Brain Diseases, Metabolic 84

C18.452.174 Calcium Metabolism Disorders 317

C18.452.284 DNA Repair-Deficiency Disorders 10

C18.452.394 Glucose Metabolism Disorders 103

C18.452.479 Hyperlactatemia 5

C18.452.565 Iron Metabolism Disorders 100

C18.452.584 Lipid Metabolism Disorders 99

C18.452.603 Malabsorption Syndromes 300

C18.452.625 Metabolic Syndrome 1 983

C18.452.648 Metabolism, Inborn Errors 711

C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124

C18.452.648.151 Amino Acid Transport Disorders, Inborn 1

C18.452.648.176 Amyloidosis, Familial 16

C18.452.648.189 Brain Diseases, Metabolic, Inborn 26

C18.452.648.202 Carbohydrate Metabolism, Inborn Errors 36

C18.452.648.300 Hyperbilirubinemia, Hereditary 35

C18.452.648.398 Lipid Metabolism, Inborn Errors 154

C18.452.648.595 Lysosomal Storage Diseases 72

C18.452.648.618 Metal Metabolism, Inborn Errors 16

C18.452.648.663 Peroxisomal Disorders 20

C18.452.648.753 Progeria 27

C18.452.648.798 Purine-Pyrimidine Metabolism, Inborn Errors 40

C18.452.648.893 Renal Tubular Transport, Inborn Errors 36

C18.452.648.925 Steroid Metabolism, Inborn Errors 7

C18.452.660 Mitochondrial Diseases 159

C18.452.750 Phosphorus Metabolism Disorders 111

C18.452.811 Porphyrias 252

C18.452.845 Proteostasis Deficiencies 6

C18.452.880 Skin Diseases, Metabolic 17

C18.452.915 Wasting Syndrome 13

C18.452.950 Water-Electrolyte Imbalance 308

Narrower terms