Albinism [albinismus]

topical
17
Persistent link   https://www.medvik.cz/link/D000417
Definition

General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.

Annotation
general or unspecified; prefer specifics
DUI
D000417 MeSH Browser
CUI
M0000628

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications 1
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics 2
HI
history
IM
immunology 1
ME
metabolism 1
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C11 Eye Diseases 1 495
C11.270 Eye Diseases, Hereditary 58
C11.270.019 Aicardi Syndrome
C11.270.040 Albinism 17
C11.270.040.090 Albinism, Ocular 4
C11.270.040.545 Albinism, Oculocutaneous 7
C11.270.040.772 Chediak-Higashi Syndrome 4
C11.270.060 Aniridia 18
C11.270.142 Choroideremia 3
C11.270.147 Coloboma 14
C11.270.151 Cone Dystrophy
C11.270.152 Cone-Rod Dystrophies
C11.270.162 Corneal Dystrophies, Hereditary 63
C11.270.235 Duane Retraction Syndrome 9
C11.270.238 Familial Exudative Vitreoretinopathies
C11.270.240 Graves Ophthalmopathy 58
C11.270.468 Gyrate Atrophy 1
C11.270.516 Leber Congenital Amaurosis 6
C11.270.564 Optic Atrophies, Hereditary 5
C11.270.588 Optic Nerve Hypoplasia 1
C11.270.612 Retinal Degeneration 75
C11.270.660 Retinal Dysplasia 4
C11.270.684 Retinitis Pigmentosa 56
C11.270.862 Retinoblastoma 159
C11.270.872 Stargardt Disease 6
C11.270.881 Walker-Warburg Syndrome 4
C11.270.921 Weill-Marchesani Syndrome 1
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 215
C16.320.290 Eye Diseases, Hereditary 58
C16.320.290.019 Aicardi Syndrome
C16.320.290.040 Albinism 17
C16.320.290.040.090 Albinism, Ocular 4
C16.320.290.040.100 Albinism, Oculocutaneous 7
C16.320.290.040.600 Piebaldism 1
C16.320.290.078 Aniridia 18
C16.320.290.142 Choroideremia 3
C16.320.290.152 Cone-Rod Dystrophies
C16.320.290.162 Corneal Dystrophies, Hereditary 63
C16.320.290.235 Duane Retraction Syndrome 9
C16.320.290.352 Familial Exudative Vitreoretinopathies
C16.320.290.410 Graves Ophthalmopathy 58
C16.320.290.468 Gyrate Atrophy 1
C16.320.290.564 Optic Atrophies, Hereditary 5
C16.320.290.612 Optic Nerve Hypoplasia 1
C16.320.290.660 Retinal Dysplasia 4
C16.320.290.684 Retinitis Pigmentosa 56
C16.320.290.724 Stargardt Disease 6
C16.320.290.763 Vitelliform Macular Dystrophy 5
C16.320.290.842 Weill-Marchesani Syndrome 1
C16.320.565 Metabolism, Inborn Errors 714
C16.320.565.100 Amino Acid Metabolism, Inborn Errors 124
C16.320.565.100.102 Albinism 17
C16.320.565.100.102.090 Albinism, Ocular 4
C16.320.565.100.102.100 Albinism, Oculocutaneous 7
C16.320.565.100.102.600 Piebaldism 1
C16.320.565.100.187 Alkaptonuria 76
C16.320.565.100.477 Hyperglycinemia, Nonketotic 7
C16.320.565.100.480 Hyperhomocysteinemia 212
C16.320.565.100.544 Hyperlysinemias
C16.320.565.100.608 Maple Syrup Urine Disease 8
C16.320.565.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C16.320.565.100.620 Multiple Carboxylase Deficiency
C16.320.565.100.766 Phenylketonurias 286
C16.320.565.100.794 Prolidase Deficiency
C16.320.565.100.823 Propionic Acidemia 3
C16.320.565.100.880 Tyrosinemias 18
C16.320.565.100.940 Urea Cycle Disorders, Inborn 7
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.080.090 Albinism, Ocular 4
C16.320.850.080.100 Albinism, Oculocutaneous 7
C16.320.850.080.600 Piebaldism 1
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 454
C16.320.850.235 Dyskeratosis Congenita 9
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.260 Ehlers-Danlos Syndrome 51
C16.320.850.275 Epidermolysis Bullosa 108
C16.320.850.337 Erythrokeratodermia Variabilis 1
C16.320.850.368 Hyaline Fibromatosis Syndrome 1
C16.320.850.400 Ichthyosiform Erythroderma, Congenital 8
C16.320.850.402 Ichthyosis Bullosa of Siemens 3
C16.320.850.405 Ichthyosis Vulgaris 5
C16.320.850.408 Ichthyosis, X-Linked 9
C16.320.850.420 Incontinentia Pigmenti 19
C16.320.850.475 Keratoderma, Palmoplantar 15
C16.320.850.542 Leukokeratosis, Hereditary Mucosal 1
C16.320.850.595 Lipoid Proteinosis of Urbach and Wiethe 5
C16.320.850.647 Monilethrix 1
C16.320.850.673 Netherton Syndrome 2
C16.320.850.700 Pemphigus, Benign Familial 11
C16.320.850.730 Porokeratosis 11
C16.320.850.738 Porphyria, Erythropoietic 11
C16.320.850.742 Porphyrias, Hepatic 27
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 8
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.895 Trichothiodystrophy Syndromes 1
C16.320.850.970 Xeroderma Pigmentosum 25
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 801
C17.800.621 Pigmentation Disorders 132
C17.800.621.440 Hypopigmentation 15
C17.800.621.440.102 Albinism 17
C17.800.621.440.102.090 Albinism, Ocular 4
C17.800.621.440.102.100 Albinism, Oculocutaneous 7
C17.800.621.440.102.600 Piebaldism 1
C17.800.621.440.895 Vitiligo 111
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.080 Albinism 17
C17.800.827.080.090 Albinism, Ocular 4
C17.800.827.080.100 Albinism, Oculocutaneous 7
C17.800.827.080.600 Piebaldism 1
C17.800.827.180 Cutis Laxa 10
C17.800.827.190 Darier Disease 26
C17.800.827.210 Dermatitis, Atopic 1 454
C17.800.827.235 Dyskeratosis Congenita 9
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.260 Ehlers-Danlos Syndrome 51
C17.800.827.275 Epidermolysis Bullosa 108
C17.800.827.337 Erythrokeratodermia Variabilis 1
C17.800.827.368 Hereditary Autoinflammatory Diseases 47
C17.800.827.384 Hyaline Fibromatosis Syndrome 1
C17.800.827.400 Ichthyosiform Erythroderma, Congenital 8
C17.800.827.403 Ichthyosis Bullosa of Siemens 3
C17.800.827.405 Ichthyosis Vulgaris 5
C17.800.827.408 Ichthyosis, X-Linked 9
C17.800.827.420 Incontinentia Pigmenti 19
C17.800.827.475 Keratoderma, Palmoplantar 15
C17.800.827.595 Leukokeratosis, Hereditary Mucosal 1
C17.800.827.602 Monilethrix 1
C17.800.827.610 Muir-Torre Syndrome 10
C17.800.827.655 Netherton Syndrome 2
C17.800.827.700 Pemphigus, Benign Familial 11
C17.800.827.730 Porokeratosis 11
C17.800.827.738 Porphyria, Erythropoietic 11
C17.800.827.742 Porphyrias, Hepatic 27
C17.800.827.750 Pseudoxanthoma Elasticum 13
C17.800.827.775 Rothmund-Thomson Syndrome 8
C17.800.827.820 Sjogren-Larsson Syndrome 4
C17.800.827.895 Trichothiodystrophy Syndromes 1
C17.800.827.970 Xeroderma Pigmentosum 25
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 200
C18.452.648 Metabolism, Inborn Errors 714
C18.452.648.100 Amino Acid Metabolism, Inborn Errors 124
C18.452.648.100.102 Albinism 17
C18.452.648.100.102.090 Albinism, Ocular 4
C18.452.648.100.102.100 Albinism, Oculocutaneous 7
C18.452.648.100.102.600 Piebaldism 1
C18.452.648.100.187 Alkaptonuria 76
C18.452.648.100.477 Hyperglycinemia, Nonketotic 7
C18.452.648.100.480 Hyperhomocysteinemia 212
C18.452.648.100.544 Hyperlysinemias
C18.452.648.100.608 Maple Syrup Urine Disease 8
C18.452.648.100.614 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 2
C18.452.648.100.620 Multiple Carboxylase Deficiency
C18.452.648.100.766 Phenylketonurias 286
C18.452.648.100.823 Propionic Acidemia 3
C18.452.648.100.880 Tyrosinemias 18
C18.452.648.100.940 Urea Cycle Disorders, Inborn 7

Albinism deafness syndrome Disease MeSH Browser

Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells Disease MeSH Browser

Brachymetapody-Anodontia-Hypotrichosis-Albinoidism Disease MeSH Browser

Microcephaly albinism digital anomalies syndrome Disease MeSH Browser

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