ICD-11 code : 5C57.0;
Preferred Label : Disorders of peroxisome biogenesis;
ICD-11 definition : Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD)
and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum
of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and
Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain
disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction,
progressive sensorineural hearing loss, and retinopathy.;
ICD-11 synonym : Zellweger spectrum disorder; Hyperpipecolic acidaemia;
Origin ID : 1919322367;
UMLS CUI : C1832200;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- ICD-10 Mapping
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD)
and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum
of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and
Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain
disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction,
progressive sensorineural hearing loss, and retinopathy.
