Statements (46)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
metabolic disorder |
| gptkbp:affects |
thyroid gland
newborns |
| gptkbp:canBe |
transient
permanent |
| gptkbp:cause |
constipation
hypotonia intellectual disability 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 |
19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Congenital Hypothyroidism
|
| 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
|