mucopolysaccharidosis IV

Preferred Label : mucopolysaccharidosis IV;

MeSH definition : Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.;

MeSH synonym : eccentroosteochondrodysplasias; mucopolysaccharidosis 4; morquio's disease; disease, morquio's; morquios syndrome; syndrome, morquio's; eccentro-osteochondrodysplasia; morquio syndrome; eccentroosteochondrodysplasia; eccentro osteochondrodysplasia; morquio's syndrome; morquio disease; morquios disease; eccentro-osteochondrodysplasias; disease, morquio; mucopolysaccharidosis type IV; IV, mucopolysaccharidosis type; IVs, mucopolysaccharidosis type; mucopolysaccharidosis type IVs; type IV, mucopolysaccharidosis; type IVs, mucopolysaccharidosis; morquio syndromes; syndrome, morquio; syndromes, morquio;

MeSH hyponym : mucopolysaccharidosis type IV A; mucopolysaccharidosis type IV B; Morquio A Disease; Disease, Morquio A; Mucopolysaccharidosis Type IVA; MPS IV A; MPS IVA; Galactosamine-6-Sulfatase Deficiency; Deficiencies, Galactosamine-6-Sulfatase; Deficiency, Galactosamine-6-Sulfatase; Galactosamine 6 Sulfatase Deficiency; Galactosamine-6-Sulfatase Deficiencies; Morquio Syndrome A; Syndrome A, Morquio; Morquio Syndrome B; Morquio Syndrome, Type B; Mucopolysaccharidosis Type IVB; Mucopolysaccharidosis Type IVBs; Morquio-B Disease; Disease, Morquio-B; Morquio B Disease; MPS IV B; MPS IVB; Mucopolysaccharidosis 4B; Mucopolysaccharidosis 4Bs; Morquio B Syndrome; Syndrome, Morquio B; Morquio's Disease Type B;

Related MeSH term : GALNS deficiency; Deficiencies, GALNS; Deficiency, GALNS; GALNS Deficiencies;

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

Details

Origin ID

D009085;

UMLS CUI

C0026707;

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)
- Morquio syndrome C [OMIM Phenotype]
- Mucopolysaccharidosis IV-A (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis Type IVA [NCIt concept]
- Mucopolysaccharidosis Type IVB [NCIt concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type IVB (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- Other mucopolysaccharidoses [ICD-10 Sub-category (who)]
- galactosamine (N-acetyl)-6-sulfatase [ORDO Gene]
- galactosamine (N-acetyl)-6-sulfatase [HGNC gene]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IVB [DO Concept]
- mucopolysaccharidosis, mps-iv-a [SNOMED Notion]
Currated CISMeF NLP mapping
- Morquio Syndrome [NCIt concept]
- Morquio disease [PASCAL descriptor]
- Morquio disease [MedDRA LLT]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome [Radlex concept]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ICD-11 Sub-sub category]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [DO Concept]
DO Cross reference
- mucopolysaccharidosis IV [DO Concept]
- mucopolysaccharidosis IVA [DO Concept]
- mucopolysaccharidosis type IVB [DO Concept]
Has phenotype(s) (HPO)
- Corneal opacity [HPO term]
- Frequent upper respiratory tract infections [HPO term]
- Mild hepatomegaly [HPO term]
- Mildly coarse facies [HPO term]
- Short-trunked dwarfism [HPO term]
Manual NTBT mappings (CISMeF)
- Lysosomal storage disease with skeletal involvement [ORDO Disease]
- Metabolic disease with corneal opacity [ORDO Disease]
ORDO relation(s)
- Mucopolysaccharidosis type 4 [ORDO Disease]
Record concept(s)
- GALNS deficiency [MeSH concept]
- mucopolysaccharidosis IV [MeSH concept]
- mucopolysaccharidosis type IV A [MeSH concept]
- mucopolysaccharidosis type IV B [MeSH concept]
Related MeSH Supplementary Concept(s)
- nonkeratan-sulfate-excreting morquio syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Mucopolysaccharidosis Type IVA [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Morquio Syndrome [NCIt concept]
- Morquio disease [MedDRA LLT]
- Morquio syndrome [Radlex concept]
- Morquio syndrome [Disease (Nov.)]
- Morquio syndrome (disorder) [SNOMED CT concept]
- Mucopolysaccharidosis IV [MedDRA Preferred Term]
- Mucopolysaccharidosis type 4 [ORDO Disease]
- Mucopolysaccharidosis type 4 [ICD-11 Sub-sub category]
- morquio syndrome, nos [SNOMED Notion]
- mucopolysaccharidosis IV [DO Concept]
Validated automatic mappings to BTNT
- Mucopolysaccharidosis Type IVB [NCIt concept]
- Mucopolysaccharidosis type 4A [ORDO Disease]
- Mucopolysaccharidosis type 4A [ICD-11 More detail]
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis type 4B [ICD-11 More detail]
- Mucopolysaccharidosis, type iva [OMIM Phenotype]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- mucopolysaccharidosis type IVa [Disease (Nov.)]
- mucopolysaccharidosis type IVb [Disease (Nov.)]

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