Ichthyosis, X-Linked [ichtyóza vázaná na chromozom X]

topical
9
Terms

deficience steroidsulfatázy
deficit steroidsulfatázy
ichtyóza vázaná na chromozóm X
placentární deficience steroidsulfatázy
placentární deficit steroidsulfatázy
X-vázaná ichtyóza

 

Ichthyosis, Sex-Linked
Placental Steroid Sulfatase Deficiency
Steroid Sulfatase Deficiency
Steroid Sulfatase Deficiency Disease

Persistent link   https://www.medvik.cz/link/D016114
Definition

Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.

Annotation
do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
DUI
D016114 MeSH Browser
CUI
M0024615
Previous indexing
Ichthyosis (1966-1990)
History note
91
Public note
91

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 1
DI
diagnosis 6
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 2
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 3
GE
genetics 3
HI
history 0
IM
immunology 0
ME
metabolism 1
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 1
PP
physiopathology 1
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 3
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
C16.131.831 Skin Abnormalities 51
C16.131.831.512 Ichthyosis 62
C16.131.831.512.400 Ichthyosiform Erythroderma, Congenital 8
C16.131.831.512.408 Ichthyosis Bullosa of Siemens 3
C16.131.831.512.410 Ichthyosis Vulgaris 5
C16.131.831.512.420 Ichthyosis, X-Linked 9
C16.131.831.512.723 Sjogren-Larsson Syndrome 4
C16.320 Genetic Diseases, Inborn 1 213
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.322.030 Aicardi Syndrome
C16.320.322.061 Androgen-Insensitivity Syndrome 56
C16.320.322.068 Barth Syndrome 6
C16.320.322.076 Bulbo-Spinal Atrophy, X-Linked 8
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.322.124 Fabry Disease 187
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.201 Glycogen Storage Disease Type IIb 11
C16.320.322.217 Glycogen Storage Disease Type VIII
C16.320.322.233 Granulomatous Disease, Chronic 54
C16.320.322.235 Hemophilia B 214
C16.320.322.237 Hyper-IgM Immunodeficiency Syndrome, Type 1 2
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.370 Isolated Noncompaction of the Ventricular Myocardium 11
C16.320.322.500 X-Linked Intellectual Disability 17
C16.320.322.562 Muscular Dystrophy, Duchenne 133
C16.320.322.625 Muscular Dystrophy, Emery-Dreifuss 18
C16.320.322.750 Oculocerebrorenal Syndrome 9
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease 19
C16.320.322.906 Pelizaeus-Merzbacher Disease 11
C16.320.322.937 Wiskott-Aldrich Syndrome 20
C16.320.322.968 X-Linked Combined Immunodeficiency Diseases 4
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.925 Steroid Metabolism, Inborn Errors 7
C16.320.565.925.249 Adrenal Hyperplasia, Congenital 225
C16.320.565.925.324 Antley-Bixler Syndrome Phenotype 1
C16.320.565.925.400 Ichthyosis, X-Linked 9
C16.320.565.925.500 Mineralocorticoid Excess Syndrome, Apparent 2
C16.320.565.925.875 Smith-Lemli-Opitz Syndrome 30
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 444
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 26
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 7
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.895 Trichothiodystrophy Syndromes 1
C16.320.850.970 Xeroderma Pigmentosum 25
C16.614 Infant, Newborn, Diseases 1 946
C16.614.492 Ichthyosis 62
C16.614.492.400 Ichthyosiform Erythroderma, Congenital 8
C16.614.492.410 Ichthyosis Bullosa of Siemens 3
C16.614.492.420 Ichthyosis, X-Linked 9
C16.614.492.723 Sjogren-Larsson Syndrome 4
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 796
C17.800.428 Keratosis 133
C17.800.428.333 Ichthyosis 62
C17.800.428.333.250 Ichthyosiform Erythroderma, Congenital 8
C17.800.428.333.330 Ichthyosis Bullosa of Siemens 3
C17.800.428.333.410 Ichthyosis Vulgaris 5
C17.800.428.333.420 Ichthyosis, X-Linked 9
C17.800.428.333.723 Sjogren-Larsson Syndrome 4
C17.800.804 Skin Abnormalities 51
C17.800.804.512 Ichthyosis 62
C17.800.804.512.400 Ichthyosiform Erythroderma, Congenital 8
C17.800.804.512.405 Ichthyosis Bullosa of Siemens 3
C17.800.804.512.410 Ichthyosis Vulgaris 5
C17.800.804.512.420 Ichthyosis, X-Linked 9
C17.800.804.512.723 Sjogren-Larsson Syndrome 4
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.080 Albinism 17
C17.800.827.180 Cutis Laxa 10
C17.800.827.190 Darier Disease 26
C17.800.827.210 Dermatitis, Atopic 1 444
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 46
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 26
C17.800.827.750 Pseudoxanthoma Elasticum 13
C17.800.827.775 Rothmund-Thomson Syndrome 7
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 1 196
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.925 Steroid Metabolism, Inborn Errors 7
C18.452.648.925.249 Adrenal Hyperplasia, Congenital 225
C18.452.648.925.324 Antley-Bixler Syndrome Phenotype 1
C18.452.648.925.400 Ichthyosis, X-Linked 9
C18.452.648.925.500 Mineralocorticoid Excess Syndrome, Apparent 2
C18.452.648.925.875 Smith-Lemli-Opitz Syndrome 30

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