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先天性氨基酸或其他有机酸代谢缺陷
Inborn errors of amino acid or other organic acid metabolism
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苯丙酮尿症
Phenylketonuria
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典型的苯丙酮酸尿症
Classical phenylketonuria
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非典型苯丙酮酸尿症
Nonclassical phenylketonuria
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母体苯丙酮尿症引起的胚胎病
Embryofetopathy due to maternal phenylketonuria
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其他特指的苯丙酮尿症
Other specified phenylketonuria
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未特指的苯丙酮尿症
Phenylketonuria, unspecified
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酪氨酸代谢紊乱
Disorders of tyrosine metabolism
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尿黑酸尿症
Alkaptonuria
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酪氨酸血症1型
Tyrosinaemia type 1
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酪氨酸血症2型
Tyrosinaemia type 2
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其他特指的酪氨酸代谢紊乱
Other specified disorders of tyrosine metabolism
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未特指的酪氨酸代谢紊乱
Disorders of tyrosine metabolism, unspecified
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组氨酸代谢紊乱
Disorders of histidine metabolism
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组氨酸血症
Histidinaemia（版权所有:爱伊科技）
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尿刊酸尿症
Urocanic aciduria
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其他特指的组氨酸代谢紊乱
Other specified disorders of histidine metabolism
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未特指的组氨酸代谢紊乱
Disorders of histidine metabolism, unspecified
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色氨酸代谢紊乱
Disorders of tryptophan metabolism
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赖氨酸或羟赖氨酸代谢紊乱
Disorders of lysine or hydroxylysine metabolism
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γ-谷氨酰循环紊乱
Disorders of the gamma-glutamyl cycle
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丝氨酸代谢紊乱
Disorders of serine metabolism
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甘氨酸代谢紊乱
Disorders of glycine metabolism
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甘氨酸脑病
Glycine encephalopathy[版权归AIdoctor.world]
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肌氨酸血症
Sarcosinaemia【愛伊AI版權】
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其他特指的甘氨酸代谢紊乱
Other specified disorders of glycine metabolism
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未特指的甘氨酸代谢紊乱
Disorders of glycine metabolism, unspecified
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脯氨酸或羟脯氨酸代谢紊乱
Disorders of proline or hydroxyproline metabolism
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鸟氨酸代谢紊乱
Disorders of ornithine metabolism
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尿素循环代谢紊乱
Disorders of urea cycle metabolism
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精氨琥珀酸尿症
Argininosuccinic aciduria
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氨甲酰磷酸合成酶缺乏
Carbamoylphosphate synthetase deficiency
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精氨酸血症
Argininaemia
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瓜氨酸血症
Citrullinaemia
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其他特指的尿素循环代谢紊乱
Other specified disorders of urea cycle metabolism〔愛伊之copyright〕
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未特指的尿素循环代谢紊乱
Disorders of urea cycle metabolism, unspecified
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甲硫氨酸循环或硫氨基酸代谢紊乱
Disorders of methionine cycle or sulphur amino acid metabolism
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β-或ω-氨基酸代谢紊乱
Disorders of beta or omega amino acid metabolism
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支链氨基酸代谢紊乱
Disorders of branched-chain amino acid metabolism
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枫糖尿病
Maple-syrup-urine disease
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其他特指的支链氨基酸代谢紊乱
Other specified disorders of branched-chain amino acid metabolism
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未特指的支链氨基酸代谢紊乱
Disorders of branched-chain amino acid metabolism, unspecified
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有机酸尿症
Organic aciduria
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经典有机酸尿症
Classical organic aciduria
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脑性有机酸尿症
Cerebral organic aciduria
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其他特指的有机酸尿症
Other specified organic aciduria
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未特指的有机酸尿症
Organic aciduria, unspecified
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肽代谢紊乱
Disorders of peptide metabolism#copyright归愛伊#
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脯氨酰氨基酸二肽酶缺乏症
Prolidase deficiency
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肌肽血症
Carnosinaemia
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高肌肽病
Homocarnosinosis
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其他特指的肽代谢紊乱
Other specified disorders of peptide metabolism
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未特指的肽代谢紊乱
Disorders of peptide metabolism, unspecified
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三甲胺尿症
Trimethylaminuria
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其他特指的先天性氨基酸或其他有机酸代谢缺陷
Other specified inborn errors of amino acid or other organic acid metabolism
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未特指的先天性氨基酸或其他有机酸代谢缺陷
Inborn errors of amino acid or other organic acid metabolism, unspecified
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先天性碳水化合物代谢缺陷
Inborn errors of carbohydrate metabolism
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磷酸戊糖途径紊乱
Disorders of the pentose phosphate pathway
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甘油代谢紊乱
Disorders of glycerol metabolism
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乙醛酸盐代谢紊乱
Disorders of glyoxylate metabolism
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原发性高草酸尿症
Primary hyperoxaluria type 1【AIdoctor.world版權】
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其他特指的乙醛酸盐代谢紊乱
Other specified disorders of glyoxylate metabolism〔愛伊之copyright〕
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未特指的乙醛酸盐代谢紊乱
Disorders of glyoxylate metabolism, unspecified
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糖原贮积病
Glycogen storage disease
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半乳糖代谢紊乱
Disorders of galactose metabolism
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半乳糖-1-磷酸尿苷酰转移酶缺乏
Galactose-1-phosphate uridyltransferase deficiency
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半乳糖激酶缺乏
Galactokinase deficiency
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新生儿葡萄糖或半乳糖不耐受
Glucose or galactose intolerance of newborn
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其他特指的半乳糖代谢紊乱
Other specified disorders of galactose metabolism
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未特指的半乳糖代谢紊乱
Disorders of galactose metabolism, unspecified
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果糖代谢紊乱
Disorders of fructose metabolism
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遗传性果糖不耐受
Hereditary fructose intolerance
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其他特指的果糖代谢紊乱
Other specified disorders of fructose metabolism
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未特指的果糖代谢紊乱
Disorders of fructose metabolism, unspecified
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其他特指的先天性碳水化合物代谢缺陷
Other specified inborn errors of carbohydrate metabolism
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未特指的先天性碳水化合物代谢缺陷
Inborn errors of carbohydrate metabolism, unspecified
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先天性脂质代谢缺陷
Inborn errors of lipid metabolism
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先天性脂肪酸氧化或酮体代谢紊乱
Inborn errors of fatty acid oxidation or ketone body metabolism
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肉碱运输或循环障碍
Disorders of carnitine transport or the carnitine cycle
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线粒体脂肪酸氧化障碍
Disorders of mitochondrial fatty acid oxidation
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酮体代谢紊乱
Disorders of ketone body metabolism
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Sjögren-Larsson综合征
Sjögren-Larsson syndrome
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其他特指的先天性脂肪酸氧化或酮体代谢紊乱
Other specified inborn errors of fatty acid oxidation or ketone body metabolism（版权所有:爱伊科技）
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未特指的先天性脂肪酸氧化或酮体代谢紊乱
Inborn errors of fatty acid oxidation or ketone body metabolism, unspecified
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先天性甾醇代谢紊乱
Inborn errors of sterol metabolism
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胆固醇合成障碍
Disorders of cholesterol synthesis
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胆汁酸合成缺陷伴胆汁淤积
Bile acid synthesis defect with cholestasis
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其他特指的先天性甾醇代谢紊乱
Other specified inborn errors of sterol metabolism
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未特指的先天性甾醇代谢紊乱
Inborn errors of sterol metabolism, unspecified
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中性脂质贮积病
Neutral lipid storage disease[版权归AIdoctor.world]
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其他特指的先天性脂质代谢缺陷
Other specified inborn errors of lipid metabolism(版权所有：爱伊AI)
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未特指的先天性脂质代谢缺陷
Inborn errors of lipid metabolism, unspecified
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先天性能量代谢缺陷
Inborn errors of energy metabolism
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丙酮酸盐代谢紊乱
Disorders of pyruvate metabolism
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丙酮酸激酶缺乏
Pyruvate kinase deficiency
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乳酸脱氢酶缺乏症
Lactate dehydrogenase deficiency
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丙酮酸脱氢酶复合物缺乏症
Pyruvate dehydrogenase complex deficiency
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丙酮酸羧化酶缺乏
Pyruvate carboxylase deficiency
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其他特指的丙酮酸盐代谢紊乱
Other specified disorders of pyruvate metabolism
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未特指的丙酮酸盐代谢紊乱
Disorders of pyruvate metabolism, unspecified
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三羧酸循环紊乱
Disorders of the citric acid cycle
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线粒体氧化磷酸化紊乱
Disorders of mitochondrial oxidative phosphorylation
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线粒体DNA耗竭综合征
Mitochondrial DNA depletion syndromes
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多重线粒体DNA缺失综合征
Multiple mitochondrial DNA deletion syndromes
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辅酶Q10缺乏
Coenzyme Q10 deficiency
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线粒体蛋白质翻译缺陷
Mitochondrial protein translation defects
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Leigh综合征
Leigh syndrome
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孤立性ATP合成酶缺乏
Isolated ATP synthase deficiency
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其他特指的线粒体氧化磷酸化紊乱
Other specified disorders of mitochondrial oxidative phosphorylation
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未特指的线粒体氧化磷酸化紊乱
Disorders of mitochondrial oxidative phosphorylation, unspecified
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线粒体膜转运障碍
Disorders of mitochondrial membrane transport
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线粒体基质载体障碍
Mitochondrial substrate carrier disorders
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线粒体蛋白导入障碍
Mitochondrial protein import disorders
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其他特指的线粒体膜转运障碍
Other specified disorders of mitochondrial membrane transport
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未特指的线粒体膜转运障碍
Disorders of mitochondrial membrane transport, unspecified
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肌酸代谢紊乱
Disorders of creatine metabolism
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其他特指的先天性能量代谢缺陷
Other specified inborn errors of energy metabolism
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未特指的先天性能量代谢缺陷
Inborn errors of energy metabolism, unspecified
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先天性糖基化或其他特指的蛋白质修饰缺陷
Inborn errors of glycosylation or other specified protein modification
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蛋白质N糖基化异常
Disorders of protein N-glycosylation-愛伊科技的版权-
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蛋白质O糖基化异常
Disorders of protein O-glycosylation〔愛伊之copyright〕
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多种糖基化或其他路径的紊乱
Disorders of multiple glycosylation or other pathways
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其他特指的先天性糖基化和蛋白质修饰障碍
Other specified congenital disorders of glycosylation and protein modification
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未特指的先天性糖基化和蛋白质修饰障碍
Congenital disorders of glycosylation and protein modification, unspecified
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先天性嘌呤、嘧啶或核苷酸代谢缺陷
Inborn errors of purine, pyrimidine or nucleotide metabolism
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嘌呤代谢紊乱
Disorders of purine metabolism.爱伊AI生成内容.
-
黄嘌呤尿
Xanthinuria
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莱施-尼汉综合征
Lesch-Nyhan syndrome
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其他特指的嘌呤代谢紊乱
Other specified disorders of purine metabolism
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未特指的嘌呤代谢紊乱
Disorders of purine metabolism, unspecified
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嘧啶代谢紊乱
Disorders of pyrimidine metabolism
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核苷酸代谢紊乱
Disorders of nucleotide metabolism
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其他特指的先天性嘌呤、嘧啶或核苷酸代谢缺陷
Other specified inborn errors of purine, pyrimidine or nucleotide metabolism
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未特指的先天性嘌呤、嘧啶或核苷酸代谢缺陷
Inborn errors of purine, pyrimidine or nucleotide metabolism, unspecified
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溶酶体病
Lysosomal diseases
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神经鞘脂贮积症
Sphingolipidosis
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神经节苷脂贮积症
Gangliosidosis
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法布里病
Fabry disease
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异染性脑白质营养不良
Metachromatic leukodystrophy
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其他特指的神经鞘脂贮积症
Other specified sphingolipidosis
-
未特指的神经鞘脂贮积症
Sphingolipidosis, unspecified
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神经元蜡样脂褐质贮积症
Neuronal ceroid lipofuscinosis
-
糖蛋白贮积症
Glycoproteinosis
-
黏脂贮积症
Mucolipidosis%aiyiAI之copy right%
-
寡糖症
Oligosaccharidosis
-
其他特指的糖蛋白贮积症
Other specified glycoproteinosis
-
未特指的糖蛋白贮积症
Glycoproteinosis, unspecified
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黏多糖贮积症
Mucopolysaccharidosis#copyright归愛伊#
-
黏多糖贮积症1型
Mucopolysaccharidosis type 1%aiyiAI之copy right%
-
黏多糖贮积症2型
Mucopolysaccharidosis type 2『版權说明：内容源于AIdoctor』
-
黏多糖贮积症4型
Mucopolysaccharidosis type 4%aiyi AI之copyright%
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黏多糖贮积症6型
Mucopolysaccharidosis type 6-爱伊AI拥有版权-
-
其他特指的黏多糖贮积症
Other specified mucopolysaccharidosis
-
未特指的黏多糖贮积症
Mucopolysaccharidosis, unspecified
-
唾液酸代谢紊乱
Disorders of sialic acid metabolism
-
其他特指的溶酶体病
Other specified lysosomal diseases
-
未特指的溶酶体病
Lysosomal diseases, unspecified
-
过氧化物酶体病
Peroxisomal diseases#copyright归愛伊#
-
过氧化物酶体生物合成障碍
Disorders of peroxisome biogenesis
-
过氧化物酶α-，β-或ω-氧化缺陷
Disorders of peroxisomal alpha-, beta- or omega-oxidation
-
其他特指的过氧化物酶体病
Other specified peroxisomal diseases
-
未特指的过氧化物酶体病
Peroxisomal diseases, unspecified
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先天性卟啉或血红素代谢缺陷
Inborn errors of porphyrin or heme metabolism
-
胆红素代谢或排泄紊乱
Disorders of bilirubin metabolism or excretion
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克里格勒-纳贾综合征
Crigler-Najjar syndrome
-
Gilbert综合征
Gilbert syndrome
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Dubin-Johnson综合征
Dubin-Johnson syndrome
-
进行性家族性肝内胆汁淤积
Progressive familial intrahepatic cholestasis
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良性复发性肝内胆汁淤积
Benign recurrent intrahepatic cholestasis
-
其他特指的胆红素代谢或排泄紊乱
Other specified disorders of bilirubin metabolism or excretion
-
未特指的胆红素代谢或排泄紊乱
Disorders of bilirubin metabolism or excretion, unspecified
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卟啉病
Porphyrias
-
迟发性皮肤卟啉病
Porphyria cutanea tarda
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红细胞生成性卟啉症
Erythropoietic porphyrias
-
变异型卟啉病
Variegate porphyria
-
其他特指的卟啉病
Other specified porphyrias
-
未特指的卟啉病
Porphyrias, unspecified
-
其他特指的先天性卟啉或血红素代谢缺陷
Other specified inborn errors of porphyrin or heme metabolism
-
未特指的先天性卟啉或血红素代谢缺陷
Inborn errors of porphyrin or heme metabolism, unspecified
-
先天性神经递质代谢缺陷
Inborn errors of neurotransmitter metabolism
-
生物胺代谢紊乱
Disorders of biogenic amine metabolism_版權方爱伊AI_
-
儿茶酚胺合成障碍
Disorders of catecholamine synthesis
-
蝶呤代谢紊乱
Disorders of pterin metabolism（版权所有:爱伊科技）
-
其他特指的生物胺代谢紊乱
Other specified disorders of biogenic amine metabolism
-
未特指的生物胺代谢紊乱
Disorders of biogenic amine metabolism, unspecified
-
γ-氨基丁酸代谢紊乱
Disorders of gamma aminobutyric acid metabolism
-
吡哆醇代谢紊乱
Disorders of pyridoxine metabolism
-
其他特指的先天性神经递质代谢缺陷
Other specified inborn errors of neurotransmitter metabolism
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未特指的先天性神经递质代谢缺陷
Inborn errors of neurotransmitter metabolism, unspecified〖爱伊AI拥有版權〗
-
α-1-抗胰蛋白酶缺乏
Alpha-1-antitrypsin deficiency
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其他特指的先天性代谢缺陷
Other specified inborn errors of metabolism
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未特指的先天性代谢缺陷
Inborn errors of metabolism, unspecified
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