loading...| Preferred Name |
Meacham syndrome |
|
| Synonyms |
Meacham Winn Culler syndrome |
|
| Definitions |
A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/722461004 |
|
| Active |
1 |
|
| altLabel |
Meacham Winn Culler syndrome Meacham syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| CTV3ID |
XUusl |
|
| cui |
C1837026 |
|
| definition |
A multiple malformation syndrome with characteristics of congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Less than 15 patients have been reported worldwide. Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. All patients reported to date died in early childhood. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/80891009 |
|
| Has pathological process | ||
| notation |
722461004 |
|
| Occurs in | ||
| prefLabel |
Meacham syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPADVICE~ALWAYS Q87.89 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 6011000124106~MAPTARGET~Q87.89 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XUusl 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/88386004 http://purl.bioontology.org/ontology/SNOMEDCT/82354003 |