Amino acid transport disorder (disorder)
| Code | 16784003 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
237911005Disorder of amino acid and organic acid metabolism
disorder
111394006Metabolic disorder of transport
disorder
763312008Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome
disorder
190682005Cystinaemia
disorder
190681003Cystinosis
disorder
85020001Cystinuria
disorder
236475007Dibasic aminoaciduria
disorder
716747007Dicarboxylic aminoaciduria syndrome
disorder
40488004Fanconi syndrome
disorder
78311009Histidine transport defect
disorder
84121007Iminoglycinuria
disorder
79385002Lowe syndrome
disorder
30101004Neonatal cystine-lysinuria
disorder
80902009Neutral 1 amino acid transport defect
disorder