Adrenoleukodystrophy

ICD-11 code : 8A44.1;

Preferred Label : Adrenoleukodystrophy;

ICD-11 definition : 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.;

ICD-11 synonym : ALD - [adrenoleukodystrophy];

ICD-11 acronym : ALD;

ICD-11 inclusion : Addison-Schilder;

Details

Origin ID

1085655586;

Currated CISMeF NLP mapping
- Adrenoleukodystrophy [PASCAL descriptor]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy [NCIt concept]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- adrenoleukodystrophy [SNOMED Notion]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [MeSH concept]
- leukodystrophies [MedlinePlus Topic]
False automatic mappings
- ABCD1 wt Allele [NCIt concept]
- ATP binding cassette subfamily D member 1 [ORDO Gene]
- chronic disease [MeSH Descriptor]
- fructose-bisphosphate aldolase [SNOMED Notion]
Validated automatic mappings to BTNT
- Adrenoleukodystrophy [OMIM Phenotype]
- X-linked adrenoleukodystrophy [ORDO Disease]

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