Adrenoleukodystrophy

Preferred Label : Adrenoleukodystrophy;

NCIt related terms : Schilder Disease;

NCIt definition : A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.;

Alternative definition : NICHD: An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes.;

Details

Origin ID

C61252;

UMLS CUI

C0162309;

Automatic exact mappings (from CISMeF team)
- Diffuse sclerosis of central nervous system [ICD-10 Sub-category]
- Encephalitis periaxialis diffusa [MedDRA Preferred Term]
- Myelinoclastic diffuse sclerosis [ICD-11 More detail]
- Schilder disease [PASCAL descriptor]
- Schilder disease [ORDO Disease]
- Schilder's disease [MedDRA LLT]
- Schilder's disease [ICD-9 code]
- Schilder's disease (disorder) [SNOMED CT concept]
- Sudanophilic cerebral sclerosis [OMIM Phenotype]
- diffuse cerebral sclerosis of schilder [MeSH Descriptor]
- schilder's disease [SNOMED Notion]
Currated CISMeF NLP mapping
- Adrenoleukodystrophy [PASCAL descriptor]
- Adrenoleukodystrophy [ICD-11 Subcategory]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy [OMIM Phenotype]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [MeSH concept]
- adrenoleukodystrophy [SNOMED Notion]
- leukodystrophies [MedlinePlus Topic]
DO Cross reference
- adrenoleukodystrophy [DO Concept]
False automatic mappings
- ATP binding cassette subfamily D member 1 [ORDO Gene]
Has associated anatomic sites
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Addison disease [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenoleukodystrophy [OMIM Phenotype]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked adrenoleukodystrophy [ICD-11 More detail]
- X-linked adrenoleukodystrophy [LOINC component]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [MeSH concept]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked adrenoleukodystrophy [ICD-11 More detail]
Validated automatic mappings to NTBT
- leukodystrophies [MedlinePlus Topic]
- leukodystrophy [DO Concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABCD1 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ABCD1 Gene [NCIt concept]
- ABCD1 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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