loading...| Preferred Name |
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
|
| Synonyms |
Young-Simpson syndrome |
|
| Definitions |
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/699298009 |
|
| Active |
1 |
|
| altLabel |
Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) Say-Barber-Biesecker-Young-Simpson syndrome Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
XUmba |
|
| cui |
C1863557 |
|
| definition |
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20140131 |
|
| Has associated morphology |
http://purl.bioontology.org/ontology/SNOMEDCT/91431006 |
|
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/82680008 http://purl.bioontology.org/ontology/SNOMEDCT/595000 |
|
| Has interpretation | ||
| Has pathological process | ||
| INACTIVATION INDICATOR |
900000000000483008 |
|
| interprets | ||
| notation |
699298009 |
|
| Occurs in | ||
| prefLabel |
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
|
| Subset member |
447562003~MAPRULE~TRUE 900000000000497000~MAPTARGET~XUmba 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 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 900000000000490003~VALUEID~900000000000483008 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q87.8 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/363343008 http://purl.bioontology.org/ontology/SNOMEDCT/367506006 http://purl.bioontology.org/ontology/SNOMEDCT/190268003 |