Aagenaes Syndrome

Preferred Label : Aagenaes Syndrome;

NCIt synonyms : CHLS; Lymphedema-Cholestasis Syndrome 1; Lymphedema-Cholestasis Syndrome; Cholestasis-Lymphedema Syndrome; LCS1; LCS;

NCIt definition : A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis.;

Details

Origin ID

C35709;

UMLS CUI

C0268314;

Automatic exact mappings (from CISMeF team)
- Cholestasis - lymphoedema syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Aagenaes syndrome [DO Concept]
- Aagenaes syndrome [MeSH concept]
- Aagenaes syndrome [MeSH Supplementary Concept]
- Cholestasis-edema syndrome, Norwegian type (disorder) [SNOMED CT concept]
- Cholestasis-lymphedema syndrome [OMIM Phenotype]
- Cholestasis-lymphedema syndrome [ORDO Disease]
- cholestasis-edema syndrome, norwegian type [SNOMED Notion]
DO Cross reference
- Aagenaes syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aagenaes syndrome [MeSH Supplementary Concept]
- Aagenaes syndrome [MeSH concept]
- Aagenaes syndrome [DO Concept]
- Cholestasis-edema syndrome, Norwegian type (disorder) [SNOMED CT concept]
- Cholestasis-lymphedema syndrome [OMIM Phenotype]
- Cholestasis-lymphedema syndrome [ORDO Disease]
- cholestasis-edema syndrome, norwegian type [SNOMED Notion]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 15 [NCIt concept]

Keyword's position in hierarchy(ies) :

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