Lysinuric Protein Intolerance

Preferred Label : Lysinuric Protein Intolerance;

NCIt definition : A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body.;

Details

Origin ID

C121563;

UMLS CUI

C0268647;

Currated CISMeF NLP mapping
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance [OMIM Phenotype]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- Lysinuric protein intolerance (disorder) [Inactive SNOMED CT concept]
- lysinuric protein intolerance [MeSH Supplementary Concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [MeSH concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance, nos [SNOMED Notion]
DO Cross reference
- lysinuric protein intolerance [DO Concept]
See also inter- (CISMeF)
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperdibasic aminoaciduria type 2 [ICD-11 More detail]
- Lysinuric protein intolerance [ORDO Disease]
- Lysinuric protein intolerance [OMIM Phenotype]
- Lysinuric protein intolerance [MedDRA Preferred Term]
- Lysinuric protein intolerance [ICD-11 More detail]
- Lysinuric protein intolerance (disorder) [SNOMED CT concept]
- lysinuric protein intolerance [DO Concept]
- lysinuric protein intolerance [MeSH Supplementary Concept]
- lysinuric protein intolerance [MeSH concept]
- lysinuric protein intolerance [Disease (Nov.)]
- lysinuric protein intolerance, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC7A7 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients