Hyperlysinemia

Preferred Label : Hyperlysinemia;

NCIt definition : An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.;

Details

Origin ID

C123433;

UMLS CUI

C0268553;

Automatic exact mappings (from CISMeF team)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category]
- Hyperlysinaemia [MedDRA Preferred Term]
- Hyperlysinemia [MedDRA LLT]
Currated CISMeF NLP mapping
- Hyperlysinaemia [ICD-11 More detail]
- Hyperlysinemia [PASCAL descriptor]
- Hyperlysinemia [HPO term]
- Hyperlysinemia [ORDO Disease]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- Hyperlysinemia, type I [OMIM Phenotype]
- hyperlysinaemia [Disease (Nov.)]
- hyperlysinemia [DO Concept]
- hyperlysinemia, nos [SNOMED Notion]
- hyperlysinemias [MeSH concept]
- hyperlysinemias [MeSH Descriptor]
DO Cross reference
- hyperlysinemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperlysinaemia [MedDRA Preferred Term]
- Hyperlysinemia [HPO term]
- Hyperlysinemia [MedDRA LLT]
- Hyperlysinemia (disorder) [SNOMED CT concept]
- hyperlysinemia [DO Concept]
- hyperlysinemia, nos [SNOMED Notion]
- hyperlysinemias [MeSH Descriptor]
- hyperlysinemias [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AASS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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