leukodystrophy, globoid cell

Preferred Label : leukodystrophy, globoid cell;

MeSH definition : An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.;

MeSH synonym : globoid leukodystrophies; krabbe leukodystrophy; krabbe's disease; leukodystrophies, globoid; Cell Leukodystrophies, Globoid; Cell Leukodystrophy, Globoid; Globoid Cell Leukoencephalopathy; Cell Leukoencephalopathies, Globoid; Cell Leukoencephalopathy, Globoid; Globoid Cell Leukoencephalopathies; Leukoencephalopathies, Globoid Cell; Leukoencephalopathy, Globoid Cell; leukodystrophy, krabbe; krabbes disease; diffuse globoid body sclerosis; globoid cell leukodystrophy; globoid cell leukodystrophies; leukodystrophies, globoid cell; krabbes leukodystrophy; leukodystrophy, krabbe's; globoid leukodystrophy; leukodystrophy, globoid; krabbe disease; globoid body sclerosis, diffuse; krabbe's leukodystrophy; Galactosylceramide-beta-Galactosidase deficiency disease; deficiency disease, Galactosylceramide-beta-Galactosidase; deficiency diseases, Galactosylceramide-beta-Galactosidase; disease, Galactosylceramide-beta-Galactosidase deficiency; diseases, Galactosylceramide-beta-Galactosidase deficiency; Galactosylceramide-beta-Galactosidase deficiency diseases; galactocerebrosidase deficiency; deficiencies, galactocerebrosidase; deficiency, galactocerebrosidase; galactocerebrosidase deficiencies; galactosylceramidase deficiency disease; deficiency disease, galactosylceramidase; deficiency diseases, galactosylceramidase; disease, galactosylceramidase deficiency; diseases, galactosylceramidase deficiency; galactosylceramidase deficiency diseases; galactosylceramide beta galactosidase deficiency disease; GALC deficiency; deficiencies, GALC; deficiency, GALC; GALC deficiencies; galactosylceramide beta-Galactosidase deficiency; deficiencies, galactosylceramide beta-Galactosidase; deficiency, galactosylceramide beta-Galactosidase; galactosylceramide beta galactosidase deficiency; galactosylceramide beta-Galactosidase deficiencies; beta-Galactosidase deficiencies, galactosylceramide; beta-Galactosidase deficiency, galactosylceramide; galactosylceramide lipidosis; galactosylcerebrosidase deficiency; galactosylsphingosine lipidosis; psychosine lipidosis;

MeSH hyponym : Late-Onset globoid cell leukodystrophy; Early-Onset globoid cell leukodystrophy; Early Onset Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Classic; Classic Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Infantile; Infantile Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Early-Onset; Late Onset Globoid Cell Leukodystrophy; Leukodystrophy, Globoid Cell, Late-Onset;

False MeSH synonym : galactosylceramide-beta-galactosidase deficiency disease; galactosylceramidase deficiency diseases; disease, galactosylceramide-beta-galactosidase deficiency; galactosylceramidase deficiency disease; diseases, galactosylceramidase deficiency; deficiency disease, galactosylceramidase; deficiency diseases, galactosylceramidase; disease, galactosylceramidase deficiency; deficiency disease, galactosylceramide-beta-galactosidase; deficiency diseases, galactosylceramide-beta-galactosidase; diseases, galactosylceramide-beta-galactosidase deficiency; galactosylceramide beta galactosidase deficiency disease; galactosylceramide-beta-galactosidase deficiency diseases;

Wikipedia link : https://en.wikipedia.org/wiki/Krabbe disease;

Details

Origin ID

D007965;

UMLS CUI

C0023521;

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]
Automatic exact mappings (from CISMeF team)
- Galactosylceramide lipidosis [MedDRA LLT]
- Globoid cell leukodystrophy, late-onset (disorder) [SNOMED CT concept]
- galactosylceramidase [ORDO Gene]
- galactosylceramidase [HGNC gene]
- globoid cell leukodystrophy, late-onset [SNOMED Notion]
Currated CISMeF NLP mapping
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Krabbe Disease [NCIt concept]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [DO Concept]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [LOINC component]
- Krabbe disease [ORDO Disease]
- Krabbe's disease [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- globoid cell leukodystrophy, early onset [SNOMED Notion]
DO Cross reference
- Krabbe disease [DO Concept]
Has phenotype(s) (HPO)
- Chronic immune thrombocytopenia [HPO term]
- Deafness [HPO term]
- Demyelination [HPO term]
Manual BTNT mappings - CISMeF
- Adult Krabbe disease [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Infantile Krabbe disease [ORDO Disease]
- Late-infantile/juvenile Krabbe disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
MedlinePlus topic(s)
- leukodystrophies [MedlinePlus Topic]
Record concept(s)
- Early-Onset globoid cell leukodystrophy [MeSH concept]
- Late-Onset globoid cell leukodystrophy [MeSH concept]
- leukodystrophy, globoid cell [MeSH concept]
Related MeSH Supplementary Concept(s)
- krabbe disease, atypical, due to saposin A deficiency [MeSH Supplementary Concept]
See also
- galactosylceramidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactosylceramide beta-galactosidase deficiency (disorder) [SNOMED CT concept]
- Galactosylceramide lipidosis [MedDRA LLT]
- Krabbe Disease [NCIt concept]
- Krabbe disease [LOINC component]
- Krabbe disease [OMIM Phenotype]
- Krabbe disease [DO Concept]
- Krabbe disease [ORDO Disease]
- Krabbe disease [PASCAL descriptor]
- Krabbe disease [Disease (Nov.)]
- Krabbe disease [ICD-11 Subcategory]
- Krabbe's disease [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- Galactocerebroside beta-galactosidase deficiency - early onset (disorder) [SNOMED CT concept]
- Globoid cell leukodystrophy, early onset (disorder) [SNOMED CT concept]
- Infantile Krabbe disease [ICD-11 More detail]

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