Catalog
Syndromes with structural anomalies due to inborn errors of metabolism
Link to WHO Definition
Syndromes with structural anomalies due to inborn errors of metabolism – http://id.who.int/icd/entity/92993920
Parents
Children
- 5C53.02 Pyruvate dehydrogenase complex deficiency
- Pseudo-Zellweger syndrome
- Classical homocystinuria
- 5C56.3 Mucopolysaccharidosis
- 5C56.21 Oligosaccharidosis
- 5C52.10 Disorders of cholesterol synthesis
- Zellweger syndrome
- Hypophosphatasia
- 5C56.01 Fabry disease
- Encephalopathy due to sulfite oxidase deficiency
- 5C56.20 Mucolipidosis
- Infantile Refsum disease
- Mucosulfatidosis
- 5C54 Inborn errors of glycosylation or other specified protein modification
- Menkes disease