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永久性先天性甲状腺功能减退症伴弥漫性甲状腺肿
Permanent congenital hypothyroidism with diffuse goitre
- 层级
- 6 级
定义
由于在产前期间甲状腺未能正常发育而导致甲状腺功能部分或完全丧失的状况。这种情况的特点是甲状腺肿大，光滑，婴儿表情呆滞，面部浮肿，舌头粗大突出。这种情况也可能出现窒息发作、便秘、头发干脆、黄疸、肌张力不足、发际线低、喂养不良、身高矮小、嗜睡或行动迟缓。
A condition caused by a partial or complete loss of thyroid function due to failure of the thyroid to correctly develop during the antenatal period. This condition is characterised by a swollen, smooth thyroid gland, and in infants by a dull look, puffy face, and thick tongue that sticks out. This condition may also present with choking episodes, constipation, dry brittle hair, jaundice, lack of muscle tone, low hairline, poor feeding, short height, sleepiness, or sluggishness.
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索引词 可用于检索该条目的同义词与别名
- 永久性先天性甲状腺功能减退症伴弥漫性甲状腺肿
- 先天性甲状腺功能减退症伴弥漫性甲状腺肿
- 甲状腺肿克汀病
- 甲状腺肿呆小病
- 先天性弥漫性甲状腺肿 [possible translation]
- 先天性弥漫性甲状腺肿 [possible translation]
- 先天性甲状腺肿NOS [possible translation]
- 先天性非毒性甲状腺肿 [possible translation]
- 先天性非毒性实质性甲状腺肿 [possible translation]
- 先天性实质性甲状腺肿 [possible translation]
- 先天性实质性甲状腺肿 [possible translation]
- 先天性胸骨后甲状腺肿 [possible translation]
- 先天性甲状腺肿 [possible translation]
- 先天性胸骨后甲状腺肿 [possible translation]
- 新生儿甲状腺肿 [possible translation]
- 先天性弥漫性甲状腺肿
- 先天性甲状腺肿NOS
- 先天性非毒性甲状腺肿
- 先天性实质性甲状腺肿
- 先天性非毒性实质性甲状腺肿
- 先天性胸骨后甲状腺肿
- 先天性胸骨后甲状腺肿
- 先天性甲状腺肿
- 先天性弥漫性甲状腺肿
- 先天性实质性甲状腺肿
- 新生儿甲状腺肿
- 激素分泌受损引起的原发性先天性甲状腺功能减退症
- 激素生成障碍性甲状腺肿
- 激素生成障碍性甲状腺肿
- 家族性激素生成障碍性甲状腺肿
- 家族性甲状腺激素生成障碍
- 遗传性甲状腺激素生成障碍
- 激素生成障碍性甲状腺功能减退
- 家族性激素生成障碍性甲状腺肿 [possible translation]
- 家族性激素生成障碍性甲状腺肿
- 碘化酪氨酸脱碘酶引起的先天性甲状腺功能减退症
- 双氧化酶2突变引起的先天性甲状腺功能减退症
- 双氧化酶成熟因子2引起的先天性甲状腺功能减退症
- 碘或钠协同转运蛋白突变引起的先天性甲状腺功能减退症
- 甲状腺球蛋白突变引起的先天性甲状腺功能减退症
- 甲状腺脱碘酶突变性先天性甲状腺功能减退症
- 甲状腺过氧化物酶突变引起的先天性甲状腺功能减退症
- 甲状腺功能减退伴感觉神经性聋
- 甲状腺激素生成2B的遗传缺陷
- 甲状腺激素合成缺陷ⅡB
- 甲状腺激素有机化缺陷ii b
- 甲状腺激素抵抗引起的甲状腺功能减退
- 甲状腺受体β突变
英文词条（34）
- Permanent congenital hypothyroidism with diffuse goitre
- congenital diffuse goitre
- congenital diffuse struma
- congenital goitre NOS
- congenital hypothyroidism with diffuse goitre
- congenital nontoxic goitre
- congenital nontoxic parenchymatous goitre
- congenital parenchymatous goitre
- congenital parenchymatous struma
- congenital plunging goitre
- congenital struma
- congenital substernal goitre
- goitrous cretin
- neonatal struma
- Primary congenital hypothyroidism due to impaired hormone production
- Dyshormonogenetic hypothyroidism
- Familial dyshormonogenetic goitre
- Familial thyroid dyshormonogenesis
- Hereditary thyroid dyshormonogenesis
- dyshormogenetic goitre
- dyshormogenetic struma
- familial dyshormogenetic goitre
- Congenital hypothyroidism due to iodotyrosine deiodinase
- Congenital hypothyroidism due to dual oxidase 2 mutation
- Congenital hypothyroidism due to dual oxidase maturation factor 2
- Congenital hypothyroidism due to iodine or sodium symporter mutations
- Congenital hypothyroidism due to thyroglobulin mutations
- Congenital hypothyroidism due to thyroid deiodinase mutations
- Congenital hypothyroidism due to thyroid peroxidase mutations
- Hypothyroidism with sensorineural deafness
- Genetic defect in thyroid hormonogenesis 2B
- thyroid hormone organification defect ii b
- Hypothyroidism due to peripheral resistance to thyroid hormones
- Mutation of the thyroid receptor beta
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。