Catalog
Zellweger syndrome
No MMS code
Link to WHO Definition
Zellweger syndrome – http://id.who.int/icd/entity/226023718
Zellweger syndrome is a rare peroxisomal metabolic-dysplasia disorder characterised by dysmorphic craniofacial features, profound hypotonia, seizures, and liver and renal dysfunction.
Parents
- 8A44.1 Adrenoleukodystrophy
- 5C57.0 Disorders of peroxisome biogenesis
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature
- Retinal dystrophies with systemic associations
- Syndromes with features of hereditary cystic kidney disease, recessive inheritance
- LD2E Syndromes with structural anomalies due to inborn errors of metabolism