systemic primary carnitine deficiency disease
http://purl.obolibrary.org/obo/MONDO_0008919
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. [ Orphanet:158 ]
Term info
- SCTID:21764004 (MONDO:equivalentTo)
- OMIM:212140 (Orphanet:158/e)
- NCIT:C98864 (MONDO:equivalentTo)
- ICD9:277.82 (DOID:14365)
- ICD9:277.81 (DOID:14365)
- Orphanet:158 (OMIM:212140)
- DOID:14365 (MONDO:equivalentTo)
- UMLS:C0342788 (Orphanet:158)
- MESH:C536778 (MONDO:equivalentTo)
- GARD:0005104 (MONDO:equivalentTo)
ordo_disease
Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.
http://purl.obolibrary.org/obo/DOID_14365, http://identifiers.org/snomedct/21764004, http://identifiers.org/mesh/C536778, http://purl.obolibrary.org/obo/Orphanet_158, https://omim.org/entry/212140, http://linkedlifedata.com/resource/umls/id/C0342788, http://purl.obolibrary.org/obo/NCIT_C98864
CDSP, Carnitine transporter defect, Carnitine uptake deficiency, Carnitine deficiency, cud, renal carnitine transport defect, primary carnitine deficiency, carnitine transporter deficiency, carnitine uptake defect, SPCD, deficiency of plasma-membrane carnitine transporter, systemic primary carnitine deficiency disease
Carnitine deficiency, primary, systemic Carnitine deficiency, Carnitine uptake defect, Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine, systemic primary carnitine deficiency, Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine, Carnitine plasma-membrane transporter deficiency, CARNITINE deficiency, systemic primary, Carnitine transporter, plasma-Membrane, deficiency of
MONDO:0008919