loading...| Preferred Name |
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome |
|
| Synonyms |
Najjar syndrome |
|
| Definitions |
Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/719451006 |
|
| Active |
1 |
|
| altLabel |
Najjar syndrome Cardiogenital syndrome Malouf syndrome Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUtxM |
|
| cui |
C0796031 C0796083 |
|
| definition |
Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20170131 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
719451006 |
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| Occurs in | ||
| prefLabel |
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome |
|
| Subset member |
447562003~MAPTARGET~I42.0 447562003~MAPRULE~TRUE 447562003~MAPTARGET~E23.0 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 447562003~MAPGROUP~2 447562003~MAPADVICE~ALWAYS E23.0 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS I42.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPADVICE~ALWAYS I42.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~I42.0 900000000000497000~MAPTARGET~XUtxM 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPTARGET~E23.0 6011000124106~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS E23.0 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363290007 http://purl.bioontology.org/ontology/SNOMEDCT/204394002 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/370999003 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/399020009 |