ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C52 — Inborn errors of lipid metabolism
5C52.0 — Inborn errors of fatty acid oxidation or ketone body...
8A44.1 — Adrenoleukodystrophy
ICD-11 8A44.1 — Adrenoleukodystrophy
X-linked genetic disorder associated with accumulation of very-long-chain fatty acids in the brain and adrenal cortex due to a mutation in the ABCD1 gene causing defects in peroxisomal oxidation. Neurological symptoms can present in childhood or adulthood with almost all patients having concurrent adrenal insufficiency.
The diagnosis includes nothing.
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Peroxisomal diseases #4899
- Leukodystrophies #6816
The diagnosis is included in 3 other classes.
- Zellweger syndrome (5C57.0)
- Neonatal adrenoleukodystrophy (5A74.Y)
- X-linked adrenoleukodystrophy (5C57.1)