loading...| Preferred Name |
Cardiomyopathy, infantile histiocytoid |
| Synonyms |
Foamy myocardial transformation of infancy |
| ID |
http://purl.bioontology.org/ontology/MESH/C535584 |
| altLabel |
Foamy myocardial transformation of infancy Cardiomyopathy, Infantile Xanthomatous Cardiomyopathy, Oncocytic Oncocytic cardiomyopathy Focal lipid cardiomyopathy Cardiomyopathy, Focal Lipid Infantile xanthomatous cardiomyopathy |
| cui |
C1708371 |
| Has mapping qualifier | |
| HM |
D009202/Q000151 D014450/Q000172 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
13 |
| 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 |
T736584 T736582 T802552 T736583 T802553 T736581 T802551 T736580 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |