Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
The value of family history in diagnosing primary immunodeficiency disorders.
[omenn syndrome]
Eliciting
proper
family
medical
history
is
critical
in
decreasing
morbidity
and
mortality
in
patients
with
primary
immunodeficiency
disorders
(
PIDs
)
.
Communities
with
a
common
practice
of
consanguinity
have
a
high
rate
of
PIDs
.
We
are
presenting
2
cases
where
digging
deeply
into
the
family
medical
history
resulted
in
the
diagnosis
of
Omenn
syndrome
,
a
possibly
fatal
entity
if
not
managed
in
a
reasonable
period
.
Diseases
Validation
Diseases presenting
"high rate"
symptom
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
esophageal carcinoma
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
krabbe disease
liposarcoma
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
thoracic outlet syndrome
trochlear dysplasia
x-linked adrenoleukodystrophy
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