Aagenaes syndrome
http://purl.obolibrary.org/obo/MONDO_0008966
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. [ Orphanet:1414 ]
Term info
- NCIT:C35709 (MONDO:equivalentTo)
- ICD9:576.8 (MONDO:relatedTo)
- DOID:6691 (MONDO:equivalentTo)
- Orphanet:1414 (OMIM:214900)
- GARD:0000370 (MONDO:equivalentTo)
- UMLS:C0268314 (Orphanet:1414)
- OMIM:214900 (Orphanet:1414/e)
- MESH:C535330 (MONDO:equivalentTo)
- SCTID:28724005 (MONDO:equivalentTo)
- ICD10CM:Q82.0 (Orphanet:1414/ntbt)
gard_rare, ordo_disease
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
http://identifiers.org/snomedct/28724005, http://linkedlifedata.com/resource/umls/id/C0268314, http://purl.obolibrary.org/obo/Orphanet_1414, https://omim.org/entry/214900, http://identifiers.org/mesh/C535330, http://purl.obolibrary.org/obo/NCIT_C35709, http://purl.obolibrary.org/obo/DOID_6691
Aagenaes syndrome, cholestasis-edema syndrome, Norwegian type
cholestasis lymphedema syndrome, lymphedema cholestasis syndrome, cholestasis-lymphedema syndrome, LCS1, Chls, LCS, lymphedema-cholestasis syndrome
MONDO:0008966
https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome