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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D009083
http://purl.bioontology.org/ontology/MESH/D009083
|
|---|---|
| Preferred Name | Mucopolysaccharidoses |
| Definitions |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.
|
| Synonyms |
Mucopolysaccharidosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
|---|---|
| altLabel | Mucopolysaccharidosis
|
| prefLabel | Mucopolysaccharidoses
|
| Machine permutation | 92; was MUCOPOLYSACCHARIDOSIS 1974-91
|
| HN | 92; was MUCOPOLYSACCHARIDOSIS 1974-91
|
| Mapped from | |
| type | |
| tui | T047
|
| TERMUI |
T027141
T027142
|
| TH |
NLM (1992)
NLM (1974)
|
| MMR | 20060705
|
| notation | D009083
|
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| DX | 19740101
|
| cui | C0026703
|
| DC | 1
|
| MN |
C16.320.565.202.715
C16.320.565.595.600
C18.452.648.202.715
C18.452.648.595.600
C17.300.550.575
|
| AN | lysosomal storage dis; types I through VII except V are available as main headings: V = MUCOPOLYSACCHARIDOSIS V see MUCOPOLYSACCHARIDOSIS I; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
|
| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| OL | use MUCOPOLYSACCHARIDOSES to search MUCOPOLYSACCHARIDOSIS 1974-91
|
| MDA | 19990101
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |