gaucher disease

Preferred Label : gaucher disease;

MeSH definition : An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.;

MeSH synonym : glucocerebrosidase deficiency disease; gaucher's disease; Disease, Gaucher's; Disease, Gaucher; Deficiency Disease, Glucocerebrosidase; Deficiency Diseases, Glucocerebrosidase; Disease, Glucocerebrosidase Deficiency; Diseases, Glucocerebrosidase Deficiency; Cerebroside Lipidosis Syndromes; Lipidosis Syndrome, Cerebroside; Lipidosis Syndromes, Cerebroside; Syndrome, Cerebroside Lipidosis; Syndromes, Cerebroside Lipidosis; glucocerebrosidase deficiency diseases; cerebroside lipidosis syndrome; gauchers disease; glucosylceramide beta-glucosidase deficiency disease; acid beta-glucosidase deficiency disease; acid beta-Glucosidase deficiency; glucocerebrosidase deficiency; deficiencies, glucocerebrosidase; deficiency, glucocerebrosidase; glucocerebrosidase deficiencies; gaucher splenomegaly; splenomegaly, gaucher; gaucher syndrome; syndrome, gaucher; disease, gauchers; diseases, gauchers; gauchers diseases; glucocerebrosidosis; glucocerebrosidoses; glucosyl cerebroside lipidosis; cerebroside lipidoses, glucosyl; cerebroside lipidosis, glucosyl; glucosyl cerebroside lipidoses; lipidoses, glucosyl cerebroside; lipidosis, glucosyl cerebroside; glucosylceramide lipidosis; glucosylceramide lipidoses; lipidoses, glucosylceramide; lipidosis, glucosylceramide; kerasin histiocytosis; histiocytoses, kerasin; histiocytosis, kerasin; kerasin histiocytoses; kerasin lipoidosis; kerasin lipoidoses; lipoidoses, kerasin; lipoidosis, kerasin; kerasin thesaurismosis; kerasin thesaurismoses; thesaurismoses, kerasin; thesaurismosis, kerasin; lipoid histiocytosis (Kerasin type); histiocytoses, lipoid (Kerasin type); histiocytosis, lipoid (Kerasin type); lipoid histiocytoses (Kerasin type); glucosylceramidase deficiency; glucosylceramide Beta-Glucosidase deficiency;

CISMeF synonym : acid beta glucosidase deficiency; acid beta glucosidase deficiency disease; acid beta-Glucosidase deficiencies; deficiencies, acid beta-Glucosidase; deficiency, acid beta-Glucosidase; glucosylceramide beta glucosidase deficiency disease;

MeSH hyponym : gaucher disease, type 2; gaucher disease, type 1; gaucher disease, type 3; Gaucher Disease, Chronic Neuronopathic Type; Gaucher Disease, Juvenile; Disease, Juvenile Gaucher; Juvenile Gaucher Disease; Gaucher Disease, Juvenile and Adult, Cerebral; Type 3 Gaucher Disease; Gaucher Disease, Subacute Neuronopathic Form; Gaucher Disease, Subacute Neuronopathic Type; Gaucher Disease, Type III; Neuronopathic Gaucher Disease; Subacute Neuronopathic Gaucher Disease; Gaucher Disease Type 3; Gaucher Disease, Neuronopathic; Disease, Neuronopathic Gaucher; Gaucher Disease Type 1; Gaucher Disease, Chronic; Type 1 Gaucher Disease; Gaucher Disease, Noncerebral Juvenile; Gaucher Disease, Type I; GBA Deficiency; Deficiencies, GBA; Deficiency, GBA; GBA Deficiencies; Non-Neuronopathic Gaucher Disease; Disease, Non-Neuronopathic Gaucher; Gaucher Disease, Non-Neuronopathic; Non Neuronopathic Gaucher Disease; Chronic Gaucher Disease; Disease, Chronic Gaucher; Gaucher Disease, Non-Neuronopathic Form; Gaucher Disease, Non Neuronopathic Form; Gaucher Disease Type 2; Gaucher Disease, Acute Neuronopathic; Type 2 Gaucher Disease; Gaucher Disease, Infantile; Disease, Infantile Gaucher; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Type II; Infantile Gaucher Disease; Acute Neuronopathic Gaucher Disease; Gaucher Disease, Acute Neuronopathic Type;

Wikipedia link : https://en.wikipedia.org/wiki/Gaucher's disease;

Details

Origin ID

D005776;

UMLS CUI

C0017205;

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)
- Acute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- Chronic inflammation of left tympanic membrane (disorder) [SNOMED CT concept]
- Gaucher disease type 2 [ORDO Disease]
- Gaucher disease type 3 [ICD-11 More detail]
- Gaucher disease type 3 [ORDO Disease]
- Gaucher disease, type II [OMIM Phenotype]
- Gaucher disease, type III [OMIM Phenotype]
- Gaucher's disease type II [MedDRA Preferred Term]
- Gaucher's disease type II [DO Concept]
- Gaucher's disease type III [MedDRA Preferred Term]
- Gaucher's disease type III [DO Concept]
- Gaucher’s splenomegaly [ICD-11 More detail]
- Gaze up and left (qualifier value) [SNOMED CT concept]
- Glucosyl cerebroside lipidosis [MedDRA LLT]
- Left [ICD-11 Extension code]
- Left [HPO term]
- Left [FMA entity]
- Left [ICNP localization]
- Left [ICHI extension code]
- Left [LOINC part]
- Left [NCIt concept]
- Left (qualifier value) [SNOMED CT concept]
- Left lateral [FMA entity]
- Left-handedness [MedDRA Preferred Term]
- Other sphingolipidosis [ICD-10 Sub-category]
- Other sphingolipidosis [ICD-10 Sub-category (who)]
- Structure of left hand (body structure) [SNOMED CT concept]
- Subacute neuronopathic Gaucher's disease (disorder) [SNOMED CT concept]
- To the left (qualifier value) [SNOMED CT concept]
- Tumor Laterality Left [NCIt concept]
- acute neuronopathic gaucher's disease [SNOMED Notion]
- chronic non-neuropathic gaucher's disease [SNOMED Notion]
- left [Radlex concept]
- left [SNOMED Notion]
- left handedness [SNOMED Notion]
- subacute neuronopathic gaucher's disease [SNOMED Notion]
Currated CISMeF NLP mapping
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher Disease [NCIt concept]
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ICD-11 More detail]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [LOINC component]
- Gaucher disease [Radlex concept]
- Gaucher disease [ORDO Disease]
- Gaucher disease type 1 [ORDO Disease]
- Gaucher's disease [DO Concept]
- Gaucher's disease [MedDRA Preferred Term]
- Gaucher's disease type I [MedDRA Preferred Term]
- Gaucher's disease type I [DO Concept]
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
- gaucher disease [MedlinePlus Topic]
- gaucher's disease, nos [SNOMED Notion]
DO Cross reference
- Gaucher's disease [DO Concept]
False automatic mappings
- Kerasin thesaurismosis (disorder) [SNOMED CT concept]
Indexing information
- alglucerase [MeSH Supplementary Concept]
- eliglustat [MeSH Supplementary Concept]
- imiglucerase [MeSH Supplementary Concept]
- miglustat [MeSH Supplementary Concept]
- taliglucerase alfa [MeSH Supplementary Concept]
- velaglucerase alfa, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Cerebral lipidosis with dementia [ORDO Disease]
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome [ORDO Disease]
- Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly [ORDO Disease]
- Inherited ichthyosis [ORDO Disease]
- Lysosomal disease with restrictive cardiomyopathy [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Metabolic disease with dementia [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Oculomotor apraxia [ORDO Disease]
- Rare dementia [ORDO Disease]
MedlinePlus topic(s)
- gaucher disease [MedlinePlus Topic]
ORDO relation(s)
- Gaucher disease [ORDO Disease]
Record concept(s)
- gaucher disease [MeSH concept]
- gaucher disease, type 1 [MeSH concept]
- gaucher disease, type 2 [MeSH concept]
- gaucher disease, type 3 [MeSH concept]
Related MeSH Supplementary Concept(s)
- acute cerebral gaucher disease [MeSH Supplementary Concept]
- gaucher disease, atypical, due to saposin C deficiency [MeSH Supplementary Concept]
- gaucher disease, norrbottnian type [MeSH Supplementary Concept]
- gaucher disease, perinatal lethal [MeSH Supplementary Concept]
- gaucher disease, type IIIa [MeSH Supplementary Concept]
- gaucher disease, type IIIb [MeSH Supplementary Concept]
- gaucher disease, type iiic [MeSH Supplementary Concept]
- gaucher-like disease [MeSH Supplementary Concept]
See also
- glucosylceramidase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chronic non-neuropathic Gaucher's disease (disorder) [SNOMED CT concept]
- Gaucher Disease [NCIt concept]
- Gaucher disease [ORDO Disease]
- Gaucher disease [LOINC component]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [ACR pathology]
- Gaucher disease [Radlex concept]
- Gaucher disease [PASCAL descriptor]
- Gaucher disease [Disease (Nov.)]
- Gaucher disease [ICD-11 More detail]
- Gaucher's disease [MedDRA Preferred Term]
- Gaucher's disease [DO Concept]
- Glucosyl cerebroside lipidosis [MedDRA LLT]
- Glucosylceramide beta-glucosidase deficiency (disorder) [SNOMED CT concept]
- Kerasin thesaurismosis (disorder) [SNOMED CT concept]
- chronic non-neuropathic gaucher's disease [SNOMED Notion]
- gaucher disease [MedlinePlus Topic]
- gaucher's disease, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Fetal Gaucher disease [ORDO Disease]
- Gaucher disease type 1 [ICD-11 More detail]
- Gaucher disease type 2 [ICD-11 More detail]
- Gaucher disease type I [Disease (Nov.)]
- Gaucher disease type II [Disease (Nov.)]
- Gaucher disease type III [Disease (Nov.)]
- Gaucher disease, type I [OMIM Phenotype]

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