Congenital disease
Hypothyroidism
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Congenital hypothyroidism (disorder)
Congenital hypothyroidism
Id190268003
StatusDefined
Finding siteThyroid structure
OccurrenceCongenital
Global Patient Set
SNOMED CT to Orphanet simple map
General Practice / Family Practice reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE03.1
TermCongenitale hypothyroïdie zonder struma
SNOMED CT to ICD-10 extended map
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1
CorrelationSNOMED CT source code to target map code correlation not specified
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Athyrotic hypothyroidism sequence
Bamforth Lazarus syndrome
Congenital central hypothyroidism1
Congenital hypothyroidism due to absence of thyroid gland
Congenital hypothyroidism due to congenital anomaly of thyroid gland
Congenital hypothyroidism due to dual oxidase maturation factor 2
Congenital hypothyroidism due to iodine deficiency
Congenital hypothyroidism due to maternal intake of antithyroid drug
Congenital hypothyroidism due to peripheral resistance to thyroid hormone
Congenital hypothyroidism due to symporter mutation
Congenital hypothyroidism due to thyroglobulin mutation
Congenital hypothyroidism due to thyroid deiodinase mutation
Congenital hypothyroidism due to thyroid peroxidase mutation
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody
Congenital hypothyroidism with diffuse goiter
Congenital hypothyroidism without goiter1
Dyshormonogenic goiter5
Familial thyroid dyshormonogenesis
Genetic transient congenital hypothyroidism
Hypothyroidism due to defect in thyroid hormone synthesis1
Hypothyroidism due to iodide trapping defect
Hypothyroidism due to mutation in transcription factor of pituitary development
Idiopathic congenital hypothyroidism
Iodide oxidation defect
Iodide transport defect
Myxedematous form of cretinism1
Neonatal jaundice with congenital hypothyroidism
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha
Short stature with delayed bone age due to thyroid hormone metabolism deficiency
Sporadic cretinism
Transient congenital hypothyroidism due to dual oxidase 2 mutation