Galactosemia - CISMeF

Preferred Label : Galactosemia;

NCIt definition : An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.;

Details

Origin ID

C84723;

UMLS CUI

C0016952;

Automatic exact mappings (from CISMeF team)
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- Disorders of galactose metabolism [ICD-10 Sub-category]
- Galactosemia II [OMIM Phenotype]
- Galactosemia III [OMIM Phenotype]
- Hypergalactosemia [HPO term]
Currated CISMeF NLP mapping
- Galactosaemia [Vue CIM-11]
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactosemia [ICD-9 code]
- Galactosemia [PASCAL descriptor]
- Galactosemia [OMIM phenotypic series]
- Galactosemia [ORDO Disease]
- Galactosemia [MedDRA LLT]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia [Disease (Nov.)]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH Descriptor]
- galactosemias [MeSH concept]
DO Cross reference
- galactosemia [DO Concept]
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 [ORDO Disease]
- Galactosemia [ICD-9 code]
- Galactosemia [MedDRA LLT]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemias [LOINC component]
- galactosemia [DO Concept]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH concept]
- galactosemias [MeSH Descriptor]
Validated automatic mappings to BTNT
- Galactosemia I [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
related_to_genetic_biomarker
- GALE Gene [NCIt concept]
- GALK1 Gene [NCIt concept]
- GALM Gene [NCIt concept]
- GALT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients