Search on: DERMAL HYPOPLASIA, FOCAL 
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Descriptor English:   Focal Dermal Hypoplasia 
Descriptor Spanish:   Hipoplasia Dérmica Focal 
Descriptor Portuguese:   Hipoplasia Dérmica Focal 
Synonyms English:   Dermal Hypoplasia, Focal
Goltz Syndrome  
Tree Number:   C05.116.099.370.380
C16.131.077.350.424
C16.131.831.350.424
C16.320.322.186
C16.320.850.250.424
C17.800.804.350.424
C17.800.827.250.424
Definition English:   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. 
Indexing Annotation English:   sometimes called Goltz-Gorlin syndrome but do not confuse with Gorlin-Goltz syndrome which is same as GORLIN SYNDROME see BASAL CELL NEVUS SYNDROME; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
History Note English:   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 
Allowable Qualifiers English:  
blood cerebrospinal fluid
chemically induced classification
complications diet therapy
diagnosis drug therapy
economics ethnology
embryology enzymology
epidemiology etiology
genetics history
immunology metabolism
microbiology mortality
nursing pathology
prevention & control physiopathology
parasitology psychology
radiography rehabilitation
radionuclide imaging radiotherapy
surgery therapy
ultrastructure urine
ultrasonography veterinary
virology  
Record Number:   22468 
Unique Identifier:   D005489 

Occurrence in VHL:
 

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