Galactosemias - CISMeF

Preferred Label : Galactosemias;

LOINC status : ACTIVE;

Synonyme UMLS : Galactosemia, NOS; Galactosaemia, NOS; Galactose intolerance; Galactose intolerance, NOS; Galactosemia; galactosaemia;

UMLS MTHU# : MTHU021572;

Details

Origin ID

LP56739-3;

UMLS CUI

C0016952;

Automatic exact mappings (from CISMeF team)
- Disorders of galactose metabolism [ICD-10 Sub-category (who)]
- Glucose-galactose malabsorption (disorder) [SNOMED CT concept]
- Hypergalactosemia [HPO term]
- genetic brain disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Galactosaemia [Vue CIM-11]
- Galactosaemia [MedDRA Preferred Term]
- Galactose intolerance [MedDRA Preferred Term]
- Galactose intolerance [HPO term]
- Galactosemia [MedDRA LLT]
- Galactosemia [PASCAL descriptor]
- Galactosemia [ICD-9 code]
- Galactosemia [OMIM phenotypic series]
- Galactosemia [NCIt concept]
- Galactosemia [ORDO Disease]
- Galactosemia (disorder) [SNOMED CT concept]
- Galactosemia I [OMIM Phenotype]
- galactosemia [DO Concept]
- galactosemia [Disease (Nov.)]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH Descriptor]
- galactosemias [MeSH concept]
Has phenotype(s) (HPO)
- Decreased liver function, progressive [HPO term]
- Elevated liver enzymes [HPO term]
LOINC code(s)
- Galactosemias newborn screening comment-discussion:Txt:Pt:Bld.dot:Nar: [LOINC code]
- Galactosemias:Imp:Pt:Bld.dot:Nom: [LOINC code]
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 [MedDRA LLT]
- Galactosemia [ORDO Disease]
- Galactosemia [ICD-9 code]
- Galactosemia [NCIt concept]
- Galactosemia (disorder) [SNOMED CT concept]
- galactosemia [DO Concept]
- galactosemia, nos [SNOMED Notion]
- galactosemias [MeSH Descriptor]
- galactosemias [MeSH concept]

Keyword's position in hierarchy(ies) :

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