Endocrinology Book

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Infantile Hypothyroidism

Aka: Infantile Hypothyroidism, Neonatal Hypothyroidism, Hypothyroidism in Infants, Cretinism
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  1. See Also
    1. Hypothyroidism
    2. Newborn Screening
  2. Pathophysiology
    1. Congenital Hypothyroidism
  3. Causes
    1. Enzymatic defect
    2. Idodine deficiency
  4. Signs
    1. Dwarfism
    2. Yellow dry thick skin
    3. Overweight
    4. Thick lips and Tongue
    5. Short hands with thick fingers
    6. Delayed deciduous Dentition
    7. Mental retardation
    8. Delayed Sexual Development
    9. Slow Movement
  5. Labs
    1. See Hypothyroidism

Congenital Hypothyroidism (C0010308)

Definition (NCI) A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality.
Definition (CSP) condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism; it is the congenital form of thyroid deficiency, while myxedema is the acquired form.
Definition (MSH) A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D003409
ICD9 243
ICD10 E03.1
SnomedCT 3614006, 190273009, 154661001, 75065003, 267376007, 190268003, 217710005, 154660000, 267465007
English CRETINISM, CRETINISM, INFANTILE, HYPOTHYROIDISM CONGENITAL, HYPOTHYROIDISM, CONGENITAL, HYPOTHYROIDISM, INFANTILE, Cretinism, NOS, Congen hypothy not iodine def, Congenital hypothyroidism NOS, CONGEN HYPOTHYROIDISM, CHT - Congenit hypothyroidism, Hypothyroidism, congenital, congenital hypothyroidism (diagnosis), congenital hypothyroidism, Cretinism (disorder), Congenital hypothyroidism: [cretinism] or [NOS] (disorder), Hypothyroidism congenital, Congenital hypothyroidsm, Congenital hypothyroidism NOS (disorder), Congenital Hypothyroidism [Disease/Finding], infantile hypothyroidism, Hypothyroidism;congenital, hypothyroidism congenital, Congenital Hypothyroidism, Congenital hypothyroidism, Infantile hypothyroidism, Congenital hypothyroidism not due to iodine deficiency, Congenital goiter, Congenital goitre, CHT - Congenital hypothyroidism, Congenital hypothyroidism (disorder), congenital; hypothyroidism, cretin; type hypothyroid, cretin, hypothyroid; cretin (type), hypothyroidism; congenital, insufficiency; thyroid, congenital, thyroid; insufficiency, congenital, Congenital hypothyroidism: [cretinism] or [NOS], Cretinism (disorder) [Ambiguous], Congenital thyroid insufficiency, Goitrous cretinism, Cretinism, Hypothyroidism, Congenital, cretinism
Dutch cretinisme, congenitale hypothyroïdie, congenitaal; hypothyroïdie, cretin; type hypothyreotisch, hypothyreotisch; cretin (type), hypothyroïdie; congenitaal, insufficiëntie; schildklier, congenitaal, schildklier; insufficiëntie, congenitaal, hypothyreoïdie, congenitaal, Cretinisme, Myxoedeem, congenitaal
French Hypothyroïdisme congénital, HYPOTHYROIDIE CONGENITALE, Crétinisme, Hypothyroïdie congénitale
German Kretinismuns, Hypothyreose kongenital, HYPOTHYREOSE KONGENITAL, kongenitale Hypothyreose, Kretinismus, Angeborene Hypothyreose, Kongenitale Hypothyreose
Swedish Medfödd hypotyreos
Japanese ｸﾚﾁﾝﾋﾞｮｳ, ｾﾝﾃﾝｾｲｺｳｼﾞｮｳｾﾝｷﾉｳﾃｲｶｼｮｳ, 地方病性クレチン症, 粘液水腫-先天性, クレチン症, クレチニスム, 甲状腺機能低下症-先天性, 粘液水腫-乳児, 先天性甲状腺機能低下症, クレチン病, 乳児粘液水腫, 先天性粘液水腫
Czech kretenismus, kongenitální hypotyreoidismus, Vrozená hypotyreóza, Hypotyreóza vrozená, Kretinismus
Spanish Cretinism, Congenital hypothyroidism: [cretinism] or [NOS], Congenital hypothyroidism, Congenital hypothyroidism NOS, Congenital thyroid insufficiency, HIPOTIROIDISMO CONGENITO, cretinismo (concepto no activo), cretinismo (trastorno), cretinismo, hipotiroidismo congénito (trastorno), hipotiroidismo congénito no debido a la deficiencia de yodo, hipotiroidismo congénito, SAI (trastorno), hipotiroidismo congénito, SAI, hipotiroidismo congénito, hipotiroidismo infantil, Hipotiroidismo congénito, Cretinismo, Hipotiroidismo Congenito, Hipotiroidismo Congénito
Finnish Kretinismi
Russian VROZHDENNYI GIPOTIREOZ, FAGGE BOLEZN', MIKSEDEMA VROZHDENNAIA, KRETINIZM, GIPOTIREOZ VROZHDENNYI, МИКСЕДЕМА ВРОЖДЕННАЯ, ФАГГЕ БОЛЕЗНЬ, ГИПОТИРЕОЗ ВРОЖДЕННЫЙ, КРЕТИНИЗМ, ВРОЖДЕННЫЙ ГИПОТИРЕОЗ
Portuguese HIPOTIROIDISMO CONGENITO, Hipotiroidismo congénito, Cretinismo Endêmico Tipo Mixedematoso, Cretinismo, Hipotireoidismo Congênito
Polish Obrzęk śluzowaty wrodzony, Niedoczynność tarczycy wrodzona, Kretynizm
Hungarian Veleszületett hypothyreosis, Cretinizmus
Italian Cretinismo, Ipotiroidismo congenito
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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