Hereditary metabolic disease (disorder)
| Code | 1821000146108 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20220831 |
32895009Hereditary disease
disorder
75934005Metabolic disease
disorder
1237515001Alkaline ceramidase 3 deficiency
disorder
63702009Alstrom syndrome
disorder
722292000Autosomal dominant beta2-microglobulinic amyloidosis
disorder
398680004Citrullinaemia
disorder
763531001Familial benign copper deficiency
disorder
35400008Hereditary haemochromatosis
disorder
271847005Hereditary hypertyrosinaemia
disorder
54627004Hereditary xanthinuria
disorder
86095007Inborn error of metabolism
disorder
698953004Inherited aminoaciduria
disorder
403832004Inherited disorder of porphyrin metabolism
disorder
80887004Inherited methylmalonic acidaemia AND homocystinuria
disorder
1187535000Thymidine kinase 2 deficiency
disorder