Rare Diseases Symptoms Automatic Extraction
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[Screening of symptom poor hereditary disorders in clinical laboratories].
[]
Detection
of
symptom
poor
hereditary
disorders
from
laboratory
data
is
one
of
the
targets
of
the
laboratory
data
analysis
system
.
Symptom
poor
hereditary
disorders
include
;
1
)
pharmacogenetic
disorders
,
2
)
heterozygous
individuals
of
hereditary
disorders
,
3
)
early
or
symptomless
stage
of
hereditary
disorders
and
4
)
primary
symptom
poor
hereditary
disorders
.
The
following
cases
of
pseudocholinesterase
silent
gene
variants
,
lactate
dehydrogenase
M
and
H
subunit
deficiencies
,
heterozygous
individuals
of
aphosphatasia
and
Xanthinuria
were
screened
from
the
laboratory
data
analysis
system
for
hereditary
disorders
.
The
characteristics
of
the
laboratory
data
,
and
clinical
features
of
these
symptom
poor
hereditary
disorders
were
described
and
discussed
.
