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PACHYONYCHIA CONGENITA
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DeCS
Descriptor
English
:
Pachyonychia Congenita
Descriptor
Spanish
:
Paquioniquia Congénita
Descriptor
Portuguese
:
Paquioníquia Congênita
Synonyms
English
:
Pachyonychia Congenita Type 1
Pachyonychia Congenita, Type 1
Pachyonychia Congenita, Type 2
Tree Number:
C16.131.831.350.856
C16.320.850.250.856
C17.800.529.594
C17.800.804.350.856
C17.800.827.250.856
Definition
English
:
A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of
pachyonychia congenita
have been associated with mutations in
genes
that encode
KERATINS.
See Related
English
:
Keratin-17
Keratin-6
Nails, Malformed
History Note
English
:
2007
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
52142
Unique Identifier:
D053549
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS