loading...| Preferred Name | Cardiomyopathy, infantile histiocytoid | |
| Synonyms |
Foamy myocardial transformation of infancy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Focal Lipid Infantile xanthomatous cardiomyopathy Cardiomyopathy, Oncocytic Oncocytic cardiomyopathy Focal lipid cardiomyopathy |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535584 |
|
| altLabel |
Foamy myocardial transformation of infancy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Focal Lipid Infantile xanthomatous cardiomyopathy Cardiomyopathy, Oncocytic Oncocytic cardiomyopathy Focal lipid cardiomyopathy |
|
| cui |
C1708371 |
|
| Has mapping qualifier | ||
| HM |
D009202/Q000151 D014450/Q000172 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
17 |
|
| MMR |
20160929 |
|
| notation |
C535584 |
|
| prefLabel |
Cardiomyopathy, infantile histiocytoid |
|
| SC |
3 |
|
| Scope Statement |
A rare cardiomyopathy with onset usually before age 2; generally, more females are affected than males. It is characterized by the presence of pale granular foamy cells that resemble HISTIOCYTES within the MYOCARDIUM. Infants present with sudden onset dysrhythmia or cardiac arrest, similar to SIDS. It may be associated with mutations in the electron transport complex III, cytochrome b (MTCYB) gene. OMIM: 500000 |
|
| TERMUI |
T802551 T736582 T736581 T802552 T802553 T736583 T736580 T736584 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |