loading...| Preferred Name |
Fine Lubinsky syndrome |
|
| Synonyms |
Fine Lubinsky syndrome (disorder) |
|
| Definitions |
Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/720955004 |
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| Active |
1 |
|
| altLabel |
Fine Lubinsky syndrome (disorder) Brachycephaly, deafness, cataract, intellectual disability syndrome |
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| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| CTV3ID |
XUuOP |
|
| cui |
C0795941 |
|
| definition |
Syndrome with characteristics of psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. Less than 10 patients have been described in the literature so far. Although the majority of reported cases were sporadic, the syndrome has been reported in one pair of siblings (a brother and sister) with an apparently autosomal recessive inheritance pattern. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
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| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/91159003 |
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| Has interpretation | ||
| Has pathological process | ||
| interprets |
http://purl.bioontology.org/ontology/SNOMEDCT/406208005 |
|
| notation |
720955004 |
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| Occurs in | ||
| prefLabel |
Fine Lubinsky syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~ALWAYS Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 900000000000497000~MAPTARGET~XUuOP 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 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 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/85995004 http://purl.bioontology.org/ontology/SNOMEDCT/232333009 http://purl.bioontology.org/ontology/SNOMEDCT/276655000 http://purl.bioontology.org/ontology/SNOMEDCT/65094009 http://purl.bioontology.org/ontology/SNOMEDCT/363212003 http://purl.bioontology.org/ontology/SNOMEDCT/254023004 http://purl.bioontology.org/ontology/SNOMEDCT/13649004 |