Focal Dermal Hypoplasia [fokální dermální hypoplazie]

topical
6
Terms

fokální dermální hypoplázie
Goltzův syndrom
Goltzův-Gorlinův syndrom

 

Dermal Hypoplasia, Focal
Goltz Gorlin Syndrome
Goltz Syndrome
Goltz-Gorlin Syndrome
Goltz's Syndrome

Persistent link   https://www.medvik.cz/link/D005489
Definition

A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait.

Annotation
do not confuse entry term GOLTZ-GORLIN SYNDROME with GORLIN-GOLTZ SYNDROME see BASAL CELL NEVUS SYNDROME
DUI
D005489 MeSH Browser
CUI
M0008655
Previous indexing
Abnormalities, Multiple (1968-1984); Skin (1966-1984); Skin Diseases (1966-1984)
History note
91(85); was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92
Online note
use FOCAL DERMAL HYPOPLASIA to search GOLTZ-GORLIN SYNDROME 1985-92
Public note
91; was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 1
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
ME
metabolism
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
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 120
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.370 Dysostoses 22
C05.116.099.370.231 Craniofacial Dysostosis 28
C05.116.099.370.380 Focal Dermal Hypoplasia 6
C05.116.099.370.535 Klippel-Feil Syndrome 6
C05.116.099.370.652 Orofaciodigital Syndromes 7
C05.116.099.370.797 Rubinstein-Taybi Syndrome 12
C05.116.099.370.894 Synostosis 29
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.350.198 Ectodermal Dysplasia 1, Anhidrotic 3
C16.131.077.350.298 Ectodermal Dysplasia 3, Anhidrotic 1
C16.131.077.350.348 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 2
C16.131.077.350.398 Ellis-Van Creveld Syndrome 11
C16.131.077.350.424 Focal Dermal Hypoplasia 6
C16.131.077.350.568 Focal Facial Dermal Dysplasias
C16.131.077.350.712 Neurocutaneous Syndromes 29
C16.131.077.350.856 Pachyonychia Congenita 3
C16.131.831 Skin Abnormalities 51
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.350.198 Ectodermal Dysplasia 1, Anhidrotic 3
C16.131.831.350.298 Ectodermal Dysplasia 3, Anhidrotic 1
C16.131.831.350.348 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 2
C16.131.831.350.398 Ellis-Van Creveld Syndrome 11
C16.131.831.350.424 Focal Dermal Hypoplasia 6
C16.131.831.350.568 Focal Facial Dermal Dysplasias
C16.131.831.350.712 Neurocutaneous Syndromes 29
C16.131.831.350.856 Pachyonychia Congenita 3
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
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.250.198 Ectodermal Dysplasia 1, Anhidrotic 3
C16.320.850.250.298 Ectodermal Dysplasia 3, Anhidrotic 1
C16.320.850.250.348 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 2
C16.320.850.250.398 Ellis-Van Creveld Syndrome 11
C16.320.850.250.424 Focal Dermal Hypoplasia 6
C16.320.850.250.568 Focal Facial Dermal Dysplasias
C16.320.850.250.712 Neurocutaneous Syndromes 29
C16.320.850.250.856 Pachyonychia Congenita 3
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 799
C17.800.804 Skin Abnormalities 51
C17.800.804.350 Ectodermal Dysplasia 33
C17.800.804.350.198 Ectodermal Dysplasia 1, Anhidrotic 3
C17.800.804.350.298 Ectodermal Dysplasia 3, Anhidrotic 1
C17.800.804.350.348 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 2
C17.800.804.350.398 Ellis-Van Creveld Syndrome 11
C17.800.804.350.424 Focal Dermal Hypoplasia 6
C17.800.804.350.568 Focal Facial Dermal Dysplasias
C17.800.804.350.712 Neurocutaneous Syndromes 29
C17.800.804.350.856 Pachyonychia Congenita 3
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.250.198 Ectodermal Dysplasia 1, Anhidrotic 3
C17.800.827.250.298 Ectodermal Dysplasia 3, Anhidrotic 1
C17.800.827.250.348 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 2
C17.800.827.250.398 Ellis-Van Creveld Syndrome 11
C17.800.827.250.424 Focal Dermal Hypoplasia 6
C17.800.827.250.568 Focal Facial Dermal Dysplasias
C17.800.827.250.712 Neurocutaneous Syndromes 29
C17.800.827.250.856 Pachyonychia Congenita 3

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