Cholestasis-lymphedema syndrome

Preferred Label : Cholestasis-lymphedema syndrome;

CISMeF acronym : CHLS; LCS; LCS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CHLS; Aagenaes syndrome; Lymphedema-cholestasis syndrome; LCS1; LCS;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Conjugated hyperbilirubinemia; Elevated transaminases; Elevated alkaline phosphatase; Elevated serum bile acids; Hyperlipidemia;

Prefixed ID : %214900;

Details

Origin ID

214900;

UMLS CUI

C0268314;

Automatic exact mappings (from CISMeF team)
- Cholestasis - lymphoedema syndrome [ICD-11 More detail]
- Classic Hodgkin Lymphoma [NCIt concept]
- Liquid Chromatography [NCIt concept]
- Portion of cerebrospinal fluid [FMA entity]
- cerebrospinal fluid [MeSH Descriptor]
Currated CISMeF NLP mapping
- Aagenaes Syndrome [NCIt concept]
- 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 [ORDO Disease]
- cholestasis-edema syndrome, norwegian type [SNOMED Notion]
DO Cross reference
- Aagenaes syndrome [DO Concept]
False automatic mappings
- Chile [NCIt concept]
- Chlorambucil [NCIt concept]
- Saint Lucia [NCIt concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cirrhosis [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Erysipelas [HPO term]
- Hepatomegaly [HPO term]
- Hyperlipidemia [HPO term]
- Jaundice [HPO term]
- Lymphedema [HPO term]
- Malabsorption [HPO term]
- Neonatal cholestatic liver disease [HPO term]
- Onset of lymphedema around puberty [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Cholestasis-lymphedema syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aagenaes Syndrome [NCIt 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 [ORDO Disease]
- cholestasis-edema syndrome, norwegian type [SNOMED Notion]

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