congenital disorders of glycosylation

Preferred Label : congenital disorders of glycosylation;

MeSH definition : A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.;

MeSH synonym : syndromes, carbohydrate-deficient glycoprotein; carbohydrate-deficient glycoprotein syndromes; syndrome, carbohydrate-deficient glycoprotein; carbohydrate deficient glycoprotein syndrome; glycoprotein syndrome, carbohydrate-deficient; Carbohydrate-Deficient glycoprotein syndrome;

CISMeF synonym : glycoprotein syndromes, carbohydrate-deficient; glycoprotein syndrome, carbohydrate deficient;

Details

Origin ID

D018981;

UMLS CUI

C0282577;

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)
- ALG9-CDG [ORDO Disease]
- Accumulation Ratio AUC Infinity Observed [NCIt concept]
- Carbohydrate deficient glycoprotein syndrome [PASCAL descriptor]
- Congenital disorder of glycosylation, type il [OMIM Phenotype]
- Inborn errors of glycosylation or other specified protein modification [ICD-11 Category]
- Non-Melanoma Related Only Event Occurred after Initial Treatment [NCIt concept]
- congenital disorder of glycosylation If [DO Concept]
- congenital disorder of glycosylation In [DO Concept]
- congenital disorder of glycosylation It [DO Concept]
Currated CISMeF NLP mapping
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital Disorder of Deglycosylation [NCIt concept]
- Congenital disorder of deglycosylation 1 [OMIM Phenotype]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- Congenital disorder of glycosylation [ORDO Disease]
- congenital disorder of glycosylation [Disease (Nov.)]
- congenital disorder of glycosylation [DO Concept]
- congenital disorders of glycosylation [Error of metabolism category]
DO Cross reference
- congenital disorder of glycosylation [DO Concept]
Manual BTNT mappings - CISMeF
- ALG1-CDG [ORDO Disease]
- ALG12-CDG [ORDO Disease]
- ALG2-CDG [ORDO Disease]
- ALG3-CDG [ORDO Disease]
- ALG6-CDG [ORDO Disease]
- ALG8-CDG [ORDO Disease]
- B4GALT1-CDG [ORDO Disease]
- COG7-CDG [ORDO Disease]
- COG8-CDG [ORDO Disease]
- DK1-CDG [ORDO Disease]
- DPAGT1-CDG [ORDO Disease]
- DPM1-CDG [ORDO Disease]
- Leukocyte adhesion deficiency type II [ORDO Disease]
- MGAT2-CDG [ORDO Disease]
- MOGS-CDG [ORDO Disease]
- MPDU1-CDG [ORDO Disease]
- MPI-CDG [ORDO Disease]
- PMM2-CDG [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with intestinal involvement [ORDO Disease]
- Metabolic disease with pigmentary retinitis [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Sucking/swallowing disorder associated with cerebellar anomalies [ORDO Disease]
Record concept(s)
- congenital disorders of glycosylation [MeSH concept]
Related MeSH Supplementary Concept(s)
- Congenital Disorder Of Glycosylation, Type I-IIX [MeSH Supplementary Concept]
- Congenital disorder of glycosylation type 1I [MeSH Supplementary Concept]
- NGLY1 deficiency [MeSH Supplementary Concept]
- coloboma, ocular, and ichthyosis, brain malformations, and endocrine abnormalities [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1B [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1C [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1D [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1E [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1F [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1G [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1H [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1J [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1K [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1L [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 1X [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 2A [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 2D [MeSH Supplementary Concept]
- congenital disorder of glycosylation type 2E [MeSH Supplementary Concept]
- congenital disorder of glycosylation type II [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type 2C [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type 2G [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIB [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIF [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIH [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIID [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type io [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- Carbohydrate-deficient glycoprotein syndrome (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation [MedDRA Preferred Term]
- Congenital disorder of glycosylation [ORDO Disease]
- congenital disorder of glycosylation [DO Concept]
- congenital disorder of glycosylation [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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