Genetic diseases

Preferred Label : Genetic diseases;

LOINC status : ACTIVE;

Synonyme UMLS : Inherited disease, NOS; Genetic Disorders; Hereditary disease, NOS; Genetic disease; Inherited disease; Genetic disease, NOS; Hereditary disease; hereditary disorder;

UMLS MTHU# : MTHU025721;

Details

Origin ID

LP62869-0;

UMLS CUI

C0019247;

Automatic exact mappings (from CISMeF team)
- Ghost sickness (disorder) [SNOMED CT concept]
- Lethal congenital contracture syndrome type 1 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Genetic Disorder [NCIt concept]
- Genetic disease [PASCAL descriptor]
- Genetic disease (disorder) [SNOMED CT concept]
- Genetic disorders [HPMULTI term]
- Hereditary disease [PASCAL descriptor]
- Hereditary disease (disorder) [SNOMED CT concept]
- Hereditary disorder [MedDRA Preferred Term]
- Hereditary disorder NOS [MedDRA LLT]
- genetic disease [DO Concept]
- genetic diseases, inborn [MeSH Descriptor]
- genetic disorder [Disease (Nov.)]
- genetic disorders [MedlinePlus Topic]
- hereditary disease [Artificial nutrition thesaurus concept]
- hereditary disease, nos [SNOMED Notion]
- hereditary diseases [MeSH concept]
LOINC code(s)
- Genetic diseases history panel:-:Pt:^Family member:-:HL7.VMR-CDS [LOINC code]
- Genetic diseases:Prid:Pt:Bld/Tiss:Nom:FISH [LOINC code]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Genetic Disorder [NCIt concept]
- Genetic disease (disorder) [SNOMED CT concept]
- Genetic syndrome (disorder) [Inactive SNOMED CT concept]
- Hereditary disease (disorder) [SNOMED CT concept]
- Hereditary disorder [MedDRA Preferred Term]
- Hereditary disorder NOS [MedDRA LLT]
- genetic disease [DO Concept]
- genetic disorders [MedlinePlus Topic]
- hereditary disease, nos [SNOMED Notion]
- hereditary diseases [MeSH concept]
Validated automatic mappings to BTNT
- inborn genetic disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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