Congenital Hypothyroidism

GPTKB entity

Statements (46)
Predicate Object
gptkbp:instanceOf gptkb:metabolic_disorder
gptkb:disease
gptkbp:affects thyroid gland
newborns
gptkbp:canBe transient
permanent
gptkbp:cause gptkb:intellectual_disability
constipation
hypotonia
jaundice
iodine deficiency
macroglossia
genetic syndromes
dry skin
growth retardation
umbilical hernia
cretinism
thyroid dysgenesis
TSH receptor defects
dyshormonogenesis
maternal antithyroid drugs
prolonged neonatal jaundice
gptkbp:diagnosedBy newborn screening
TSH test
T4 test
gptkbp:firstDescribed gptkb:19th_century
gptkbp:ICD-10_code E03.1
gptkbp:MeSH_ID D006980
gptkbp:OMIM 218700
gptkbp:prevalence 1 in 2000 to 1 in 4000 newborns
gptkbp:prevention early detection
iodine supplementation
gptkbp:prognosis good with early treatment
poor if untreated
gptkbp:riskFactor genetic mutations
maternal autoimmune disease
maternal iodine deficiency
gptkbp:symptom lethargy
large fontanelles
poor feeding
hoarse cry
gptkbp:treatment gptkb:levothyroxine
thyroid hormone replacement
gptkbp:bfsParent gptkb:CHS
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Congenital Hypothyroidism

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