UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
E E0 E6 E7 EA EB EC ED EE EF EG EH EI EJ EK EL EM EN EO EP EQ ER ES ET EU EV EW EX EY
EP- EP4 EPA EPE EPH EPI EPM EPN EPO EPP EPR EPS EPT

Epidermolytic Hyperkeratosis

[A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder. ( MSH )]
UMLS (NCI) C0079153
 
Congenital Abnormality
Disease or Syndrome
Relation/PAR: Ichthyosiform Erythroderma, Congenital

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