leukodystrophies

Preferred Label : leukodystrophies;

MedlinePlus synonym : canavan disease; adrenoleukodystrophy;

Details

Origin ID

T1718;

UMLS CUI

C0023520;

Automatic exact mappings (from CISMeF team)
- ATP binding cassette subfamily D member 1 [ORDO Gene]
- Canavan disease [MedDRA Preferred Term]
- Canavan disease [PASCAL descriptor]
- Canavan disease [DO Concept]
- Canavan disease [ACR pathology]
- Canavan disease [OMIM Phenotype]
- Canavan disease [ORDO Disease]
- Leukodystrophies [ICD-11 Category]
- Spongy degeneration of central nervous system (disorder) [SNOMED CT concept]
- aspartoacylase [ORDO Gene]
- aspartoacylase [HGNC gene]
- canavan disease [MeSH concept]
Currated CISMeF NLP mapping
- Adrenoleukodystrophy [MedDRA Preferred Term]
- Adrenoleukodystrophy [ICD-11 Subcategory]
- Adrenoleukodystrophy [PASCAL descriptor]
- Adrenoleukodystrophy [NCIt concept]
- Adrenoleukodystrophy [OMIM Phenotype]
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
- Leucodystrophy [MedDRA LLT]
- Leukodystrophies [MedDRA High Level Term]
- Leukodystrophy [MedDRA Preferred Term]
- Leukodystrophy [PASCAL descriptor]
- Leukodystrophy [ICD-9 code]
- Leukodystrophy [NCIt concept]
- Leukodystrophy [HPO term]
- Leukodystrophy [ORDO Disease]
- Leukodystrophy (disorder) [SNOMED CT concept]
- adrenoleukodystrophy [DO Concept]
- adrenoleukodystrophy [SNOMED Notion]
- adrenoleukodystrophy [MeSH Descriptor]
- adrenoleukodystrophy [MeSH concept]
- leukodystrophy [DO Concept]
- leukodystrophy [Disease (Nov.)]
- leukodystrophy, nos [SNOMED Notion]
False UMLS correspondences (reviewed by CISMeF team)
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
False automatic mappings
- Adrenoleukodystrophy (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Deafness [HPO term]
- Demyelination [HPO term]
- Loss of very early milestones [HPO term]
MeSH descriptor(s)
- adrenoleukodystrophy [MeSH Descriptor]
- canavan disease [MeSH Descriptor]
- leukodystrophy, globoid cell [MeSH Descriptor]
- leukodystrophy, metachromatic [MeSH Descriptor]
See also
- degenerative nerve diseases [MedlinePlus Topic]
- genetic brain disorders [MedlinePlus Topic]
- genetic disorders [MedlinePlus Topic]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leucodystrophy [MedDRA LLT]
- Leukodystrophies [MedDRA High Level Term]
- Leukodystrophy [MedDRA Preferred Term]
- Leukodystrophy [ORDO Disease]
- Leukodystrophy [ICD-9 code]
- Leukodystrophy [HPO term]
- Leukodystrophy [PASCAL descriptor]
- Leukodystrophy [NCIt concept]
- Leukodystrophy (disorder) [SNOMED CT concept]
- leukodystrophy [DO Concept]
- leukodystrophy [Disease (Nov.)]
- leukodystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Adrenoleukodystrophy [NCIt concept]
- Canavan Disease [NCIt concept]
- Canavan disease [ICD-11 More detail]
- canavan disease [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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