adrenoleukodystrophy

Preferred Label : adrenoleukodystrophy;

MeSH definition : An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).;

MeSH synonym : schilder addison complex; ald (adrenoleukodystrophy); x linked adrenoleukodystrophy; x-linked adrenoleukodystrophy; schilder-addison complex; adrenoleukodystrophy, x-linked; X-ALD; X ALD; X-ALD (X-Linked adrenoleukodystrophy); X ALD (X linked adrenoleukodystrophy); Melanodermic Leukodystrophy; Leukodystrophies, Melanodermic; Leukodystrophy, Melanodermic; Siemerling-Creutzfeldt Disease; Siemerling Creutzfeldt Disease; Addison Disease and Cerebral Sclerosis; Bronze Schilder Disease;

CISMeF synonym : adrenoleukodystrophies; adrenoleukodystrophies, x-linked; adrenomyeloneuropathies; alds (adrenoleukodystrophy); x-linked adrenoleukodystrophies;

Related MeSH term : adrenomyeloneuropathy;

MeSH annotation : do not confuse with ADRENOLEUKODYSTROPHY, NEONATAL see PEROXISOMAL DISORDERS;

Wikipedia link : https://en.wikipedia.org/wiki/Adrenoleukodystrophy;

Details

Origin ID

D000326;

UMLS CUI

C0162309;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Adrenoleukodystrophy [PASCAL descriptor]
- Adrenoleukodystrophy [ICD-11 Subcategory]
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy [NCIt concept]
- Adrenoleukodystrophy [OMIM Phenotype]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- X-linked adrenoleukodystrophy [ORDO Disease]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [SNOMED Notion]
- leukodystrophies [MedlinePlus Topic]
DO Cross reference
- adrenoleukodystrophy [DO Concept]
Indexing information
- bgm protein, drosophila [MeSH Supplementary Concept]
- lorenzo's oil [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Genetic chronic primary adrenal insufficiency [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare dementia [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare male infertility [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- X-linked cerebral adrenoleukodystrophy [ORDO Disease]
MedlinePlus topic(s)
- leukodystrophies [MedlinePlus Topic]
ORDO relation(s)
- X-linked adrenoleukodystrophy [ORDO Disease]
Record concept(s)
- adrenoleukodystrophy [MeSH concept]
- adrenomyeloneuropathy [MeSH concept]
Related MeSH Supplementary Concept(s)
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- wells jankovic syndrome [MeSH Supplementary Concept]
SNOMED CT : localisation
- adrenal cortex [MeSH Descriptor]
See also
- ATP-Binding cassette transporters [MeSH Descriptor]
See also (suggested by CISMeF)
- peroxisomal disorders [MeSH Descriptor]
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 [NCIt concept]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- X-linked adrenoleukodystrophy [ORDO Disease]
- X-linked adrenoleukodystrophy [ICD-11 More detail]
- X-linked adrenoleukodystrophy [LOINC component]
- adrenoleukodystrophy [SNOMED Notion]
- adrenoleukodystrophy [DO Concept]
Validated automatic mappings to BTNT
- X-linked adrenoleukodystrophy [ICD-11 More detail]
Validated automatic mappings to NTBT
- leukodystrophy [DO Concept]

Keyword's position in hierarchy(ies) :

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