mucolipidoses - CISMeF

Preferred Label : mucolipidoses;

MeSH definition : A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7);

MeSH synonym : mucolipidosis; sialidosis; sialidoses;

CISMeF synonym : Alpha/Beta, ml III; Alpha/Beta, mucolipidosis III; Alpha/Betas, mucolipidosis III; III Alpha/Beta, mucolipidosis; III Alpha/Betas, mucolipidosis; IIIa, mucolipidosis; cell diseases, inclusion; disease, I-Cell; disease, Psuedo-Hurler; diseases, I-Cell; diseases, Psuedo-Hurler; diseases, inclusion cell; ml III Alpha/Beta; mucolipidosis II Alpha/Beta; mucolipidosis III Alpha/Beta; cell disease, inclusion; disease, inclusion cell; mucolipidosis IIIs; mucolipidosis is; mucolipidosis type 1s; mucolipidosis type IVs; mucolipidosis type is; neuraminidase deficiencies, glycoprotein; neuraminidase deficiency, glycoprotein;

MeSH hyponym : 1s, mucolipidosis type; mucolipidosis type IIIs; mucolipidosis type IIs; type 1, mucolipidosis; iiis, mucolipidosis; mucolipidosis IIs; mucolipidosis IVs; 1, mucolipidosis type; type 1s, mucolipidosis; type I mucolipidosis; type IV mucolipidosis; type II mucolipidosis; lipomucopolysaccharidosis; type III mucolipidosis; Mucolipidoses, Type I; Mucolipidosis, Type I; Type I Mucolipidoses; Glycoprotein Neuraminidase Deficiency; Deficiencies, Glycoprotein Neuraminidase; Deficiency, Glycoprotein Neuraminidase; Glycoprotein Neuraminidase Deficiencies; Cherry Red Spot-Myoclonus Syndrome; Myoclonus-Cherry Red Spot Syndrome; Mucolipidosis Type I; Mucolipidosis I; Cherry Red Spot Myoclonus Syndrome; Myoclonus Cherry Red Spot Syndrome; Mucolipidosis Type 1; Mucolipidoses, Type III; Mucolipidosis, Type III; Type III Mucolipidoses; Mucolipidosis III; Pseudo-Hurler Polydystrophy; Polydystrophy, Pseudo-Hurler; Pseudo Hurler Polydystrophy; Mucolipidosis IIIa; Mucolipidosis III Alpha Beta; Mucolipidosis Type III; Psuedo-Hurler Disease; Psuedo Hurler Disease; Psuedo-Hurler Diseases; Mucolipidoses, Type IV; Mucolipidosis, Type IV; Type IV Mucolipidoses; Deficiency Disease, Ganglioside Sialidase; Ganglioside Sialidase Deficiency Disease; Sialolipidosis; Sialolipidoses; Mucolipidosis Type IV; Mucolipidosis IV; Lipomucopolysaccharidoses; Mucolipidoses, Type II; Mucolipidosis, Type II; Type II Mucolipidoses; I-Cell Disease; I Cell Disease; I-Cell Diseases; Mucolipidosis Type II; Inclusion Cell Disease; Inclusion Cell Diseases; Mucolipidosis II;

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

Details

Origin ID

D009081;

UMLS CUI

C0026697;

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)
- Defects in glycoprotein degradation [ICD-10 Sub-category (who)]
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
- I cell disease [PASCAL descriptor]
- Lipomucopolysaccharidosis [PASCAL descriptor]
- Mucolipidosis III [PASCAL descriptor]
- Mucolipidosis IV [PASCAL descriptor]
- Mucolipidosis type III alpha/beta [ORDO Disease]
- Normosomatic sialidosis (disorder) [Inactive SNOMED CT concept]
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 1 (disorder) [SNOMED CT concept]
- glycoproteinosis [DO Concept]
- metabolic disorders [MedlinePlus Topic]
- mucolipidosis type IV [DO Concept]
Currated CISMeF NLP mapping
- Ganglioside sialidase deficiency (disorder) [Inactive SNOMED CT concept]
- I-Cell Disease [NCIt concept]
- I-cell disease (disorder) [SNOMED CT concept]
- Mucolipidosis [PASCAL descriptor]
- Mucolipidosis [ICD-11 Sub-sub category]
- Mucolipidosis [NCIt concept]
- Mucolipidosis [ORDO Disease]
- Mucolipidosis [MedDRA Preferred Term]
- Mucolipidosis (disorder) [SNOMED CT concept]
- Mucolipidosis II alpha/beta [OMIM Phenotype]
- Mucolipidosis III alpha/beta [OMIM Phenotype]
- Mucolipidosis Type IV [NCIt concept]
- Mucolipidosis iv [OMIM Phenotype]
- Mucolipidosis type I [MedDRA Preferred Term]
- Mucolipidosis type II [ORDO Disease]
- Mucolipidosis type II [MedDRA Preferred Term]
- Mucolipidosis type III [ORDO Disease]
- Mucolipidosis type III [MedDRA Preferred Term]
- Mucolipidosis type IV [MedDRA Preferred Term]
- Mucolipidosis type IV [ORDO Disease]
- Neuraminidase deficiency [OMIM Phenotype]
- Other and unspecified gangliosidosis [ICD-10 Sub-category]
- Other gangliosidosis [ICD-10 Sub-category (who)]
- Pseudo-Hurler polydystrophy (disorder) [SNOMED CT concept]
- Sialidosis [ICD-11 More detail]
- Sialidosis [ORDO Disease]
- Sialidosis [MedDRA LLT]
- Sialidosis (disorder) [SNOMED CT concept]
- ganglioside sialidase deficiency [SNOMED Notion]
- i-cell disease [SNOMED Notion]
- mucolipidoses [Error of metabolism category]
- mucolipidosis [Disease (Nov.)]
- mucolipidosis [DO Concept]
- mucolipidosis II alpha/beta [DO Concept]
- mucolipidosis III alpha/beta [DO Concept]
- mucolipidosis, nos [SNOMED Notion]
- pseudo-hurler polydystrophy [SNOMED Notion]
- sialidosis [SNOMED Notion]
DO Cross reference
- glycoproteinosis [DO Concept]
HPO term
- Deficiency of N-acetylglucosamine-1-phosphotransferase [HPO term]
Has phenotype(s) (HPO)
- Corneal opacity [HPO term]
- Fibrous dysplasia of the cornea [HPO term]
- Lack of language development [HPO term]
Indexing information
- MCOLN1 protein, human [MeSH Supplementary Concept]
- Mcoln1 protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Channelopathy due to a transient receptor potential channel defect [ORDO Disease]
- Developmental anomaly of metabolic origin [ORDO Disease]
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
- Metabolic disease with macular cherry-red spot [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Oligosaccharidosis [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
MedlinePlus topic(s)
- metabolic disorders [MedlinePlus Topic]
ORDO relation(s)
- Mucolipidosis [ORDO Disease]
Record concept(s)
- lipomucopolysaccharidosis [MeSH concept]
- mucolipidoses [MeSH concept]
- type I mucolipidosis [MeSH concept]
- type II mucolipidosis [MeSH concept]
- type III mucolipidosis [MeSH concept]
- type IV mucolipidosis [MeSH concept]
Related MeSH Supplementary Concept(s)
- microvillus inclusion disease [MeSH Supplementary Concept]
- mucolipidosis 2 [MeSH Supplementary Concept]
- mucolipidosis II alpha beta [MeSH Supplementary Concept]
- mucolipidosis III alpha beta, atypical [MeSH Supplementary Concept]
- mucolipidosis III gamma [MeSH Supplementary Concept]
- mucolipidosis type 3 A [MeSH Supplementary Concept]
- nephrosialidosis [MeSH Supplementary Concept]
- neuraminidase 1 deficiency [MeSH Supplementary Concept]
See also
- gangliosidoses [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mucolipidosis [MedDRA Preferred Term]
- Mucolipidosis [ORDO Disease]
- Mucolipidosis [ICD-11 Sub-sub category]
- Mucolipidosis [NCIt concept]
- Mucolipidosis (disorder) [SNOMED CT concept]
- glycoproteinosis [DO Concept]
- mucolipidosis [Disease (Nov.)]
- mucolipidosis [DO Concept]
- mucolipidosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Mucolipidosis type 2 [ICD-11 More detail]
- Mucolipidosis type 3 [ICD-11 More detail]
- Mucolipidosis type 4 [ICD-11 More detail]
- Mucolipidosis type IV (disorder) [SNOMED CT concept]
- Neuraminidase Deficiency [NCIt concept]
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 1 [ICD-11 More detail]
- mucolipidosis type I [Disease (Nov.)]
- mucolipidosis type II [Disease (Nov.)]
- mucolipidosis type III [Disease (Nov.)]
- mucolipidosis type IV [Disease (Nov.)]
- sialidosis type II [Disease (Nov.)]

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