galactosemias - CISMeF

Preferred Label : galactosemias;

Obsolete resource : false;

MeSH definition : A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of GALACTOKINASE; UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; or UDPGLUCOSE 4-EPIMERASE. The classic form is caused by UDPglucose-Hexose-1-Phosphate Uridylyltransferase deficiency, and presents in infancy with FAILURE TO THRIVE; VOMITING; and INTRACRANIAL HYPERTENSION. Affected individuals also may develop MENTAL RETARDATION; JAUNDICE; hepatosplenomegaly; ovarian failure (PRIMARY OVARIAN INSUFFICIENCY); and cataracts. (From Menkes, Textbook of Child Neurology, 5th ed, pp61-3);

MeSH synonym : galactosemia;

CISMeF synonym : deficiencies, UDPglucose-Hexose-1-Phosphate uridylyltransferase; deficiency, UDPglucose-Hexose-1-Phosphate uridylyltransferase; UDPglucose-Hexose-1-Phosphate uridylyltransferase deficiencies; UDPglucose-Hexose-1-Phosphate uridylyltransferase deficiency; uridylyltransferase deficiencies, UDPglucose-Hexose-1-Phosphate; uridylyltransferase deficiency, UDPglucose-Hexose-1-Phosphate;

MeSH hyponym : galactokinase deficiency disease; UDPglucose 4-Epimerase deficiency disease; Galactose-1-Phosphate Uridyl-Transferase deficiency disease; Galactose 1 Phosphate Uridyl Transferase Deficiency Disease; Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase; Deficiency Disease, Galactose 1 Phosphate Uridyl Transferase; Epimerase Deficiency Galactosemia; Deficiency Galactosemia, Epimerase; Deficiency Galactosemias, Epimerase; Epimerase Deficiency Galactosemias; Galactosemia, Epimerase Deficiency; Galactosemias, Epimerase Deficiency; Galactose-1-Phosphate Uridyltransferase Deficiency; Deficiencies, Galactose-1-Phosphate Uridyltransferase; Deficiency, Galactose-1-Phosphate Uridyltransferase; Galactose 1 Phosphate Uridyltransferase Deficiency; Galactose-1-Phosphate Uridyltransferase Deficiencies; Uridyltransferase Deficiencies, Galactose-1-Phosphate; Uridyltransferase Deficiency, Galactose-1-Phosphate; UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency Disease; UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease; Galactosemia, Classic; GALT Deficiency; Deficiencies, GALT; Deficiency, GALT; GALT Deficiencies; UDPGlucose Hexose-1-Phosphate Uridylyltransferase Deficiency; UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency; UTP Hexose-1-Phosphate Uridylyltransferase Deficiency; UTP Hexose 1 Phosphate Uridylyltransferase Deficiency; Classic Galactosemia; Classic Galactosemias; Galactosemias, Classic; Galactose-1-Phosphate Uridylyltransferase Deficiency; Deficiencies, Galactose-1-Phosphate Uridylyltransferase; Deficiency, Galactose-1-Phosphate Uridylyltransferase; Galactose 1 Phosphate Uridylyltransferase Deficiency; Galactose-1-Phosphate Uridylyltransferase Deficiencies; Uridylyltransferase Deficiencies, Galactose-1-Phosphate; Uridylyltransferase Deficiency, Galactose-1-Phosphate; UDPglucose 4 Epimerase Deficiency Disease; Deficiency Disease, UDPglucose 4-Epimerase; Deficiency Disease, UDPglucose 4 Epimerase; Galactose Epimerase Deficiency; Deficiencies, Galactose Epimerase; Deficiency, Galactose Epimerase; Galactose Epimerase Deficiencies; UDP-Galactose-4-Epimerase Deficiency Disease; UDP Galactose 4 Epimerase Deficiency Disease; Galactosemia III; Galactosemia IIIs; GALE Deficiency; Deficiencies, GALE; Deficiency, GALE; GALE Deficiencies; UDP-Galactose-4-Epimerase Deficiency; Deficiencies, UDP-Galactose-4-Epimerase; Deficiency, UDP-Galactose-4-Epimerase; UDP Galactose 4 Epimerase Deficiency; UDP-Galactose-4-Epimerase Deficiencies; Deficiency Disease, UDP-Galactose-4-Epimerase; Deficiency Disease, UDP Galactose 4 Epimerase; Deficiency Diseases, UDP-Galactose-4-Epimerase; UDP-Galactose-4-Epimerase Deficiency Diseases; Galactosemia 3; Galactosemia 3s; Galactokinase Deficiency Diseases; Hereditary Galactokinase Deficiency; Deficiencies, Hereditary Galactokinase; Deficiency, Hereditary Galactokinase; Galactokinase Deficiencies, Hereditary; Galactokinase Deficiency, Hereditary; Hereditary Galactokinase Deficiencies; Galactosemia 2; Galactosemia 2s; GALK Deficiency; Deficiencies, GALK; Deficiency, GALK; GALK Deficiencies; Deficiency Disease, Galactokinase; Galactokinase Deficiency; Deficiencies, Galactokinase; Deficiency, Galactokinase; Galactokinase Deficiencies;

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

Details

Origin ID

D005693;

UMLS CUI

C0016952;

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)
- Classic galactosemia [ORDO Disease]
- Classical galactosemia [LOINC component]
- Deficiency of galactokinase (disorder) [SNOMED CT concept]
- Deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) [SNOMED CT concept]
- Disorders of galactose metabolism [ICD-10 Sub-category]
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- Galactokinase Deficiency [NCIt concept]
- Galactokinase deficiency [LOINC component]
- Galactokinase deficiency [ORDO Disease]
- Galactose epimerase deficiency [LOINC component]
- Galactose epimerase deficiency [ORDO Disease]
- Galactosemia II [OMIM Phenotype]
- Galactosemia III [OMIM Phenotype]
- Hypergalactosemia [HPO term]
- UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency [NCIt concept]
- Uridine diphosphate glucose-4-epimerase deficiency (disorder) [SNOMED CT concept]
- classic galactosemia [DO Concept]
- classical galactosemia [SNOMED Notion]
- galactokinase deficiency [DO Concept]
- galactose epimerase deficiency [DO Concept]
- genetic brain disorders [MedlinePlus Topic]
- udpglucose-4-epimerase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Galactosaemia [Vue CIM-11]
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactosemia [PASCAL descriptor]
- Galactosemia [ICD-9 code]
- Galactosemia [OMIM phenotypic series]
- Galactosemia [NCIt concept]
- Galactosemia [ORDO Disease]
- Galactosemia [MedDRA LLT]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemia I [OMIM Phenotype]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia [Disease (Nov.)]
- galactosemia, nos [SNOMED Notion]
DO Cross reference
- classic galactosemia [DO Concept]
- galactokinase deficiency [DO Concept]
- galactose epimerase deficiency [DO Concept]
- galactosemia [DO Concept]
HPO term
- Galactose intolerance [HPO term]
- Hypergalactosemia [HPO term]
Has phenotype(s) (HPO)
- Decreased liver function, progressive [HPO term]
- Elevated liver enzymes [HPO term]
Manual NTBT mappings (CISMeF)
- Metabolic disease with cataract [ORDO Disease]
- Metabolic disease with cataract [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
ORDO relation(s)
- Galactosemia [ORDO Disease]
Record concept(s)
- Galactose-1-Phosphate Uridyl-Transferase deficiency disease [MeSH concept]
- UDPglucose 4-Epimerase deficiency disease [MeSH concept]
- galactokinase deficiency disease [MeSH concept]
- galactosemias [MeSH concept]
See also
- UDPglucose-Hexose-1-Phosphate uridylyltransferase [MeSH Descriptor]
- UTP-Hexose-1-Phosphate uridylyltransferase [MeSH Descriptor]
- galactokinase [MeSH Descriptor]
- galactose [MeSH Descriptor]
- udpglucose 4-epimerase [MeSH Descriptor]
See also (suggested by CISMeF)
- galactose [MeSH Descriptor]
- lactose [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactosemia [ICD-9 code]
- Galactosemia [MedDRA LLT]
- Galactosemia [ORDO Disease]
- Galactosemia [NCIt concept]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Classical galactosemia [LOINC component]
- Galactokinase deficiency [ICD-11 Sub-sub category]
- Galactose-1-phosphate uridyltransferase deficiency [ICD-11 Sub-sub category]
- Uridine diphosphate galactose-4-epimerase deficiency [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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