loading...| Preferred Name |
Joubert syndrome |
|
| Synonyms |
Joubert syndrome (disorder) |
|
| Definitions |
Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 |
|
| Active |
1 |
|
| altLabel |
Joubert syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| CTV3ID |
XUtaV |
|
| cui |
C0431399 |
|
| definition |
Congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Cognitive abilities are variable, ranging from severe intellectual deficit to normal intelligence. Careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrow. The syndrome is genetically heterogeneous. Seven genes, AHI1 (6q23), NPHP1 (2q13), CEP290 (12q21), TMEM67 (8q22), RPGRIP1L (16q12), ARL13B (3p12.3-q12.3) and CC2D2A (4p15), and two loci on chromosomes 9q34 (JBTS1) and 11p12-q13 (CORS2/JBTS2) have been associated with the disease so far. Transmission is autosomal recessive. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20160731 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
716997004 |
|
| Occurs in | ||
| prefLabel |
Joubert syndrome |
|
| Subset member |
6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT CHOOSE Q87.0 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~H35.00 6011000124106~MAPTARGET~Q15.9 447562003~MAPRULE~TRUE 6011000124106~MAPTARGET~Q44.7 6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect (disorder) | 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 733418003 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | 6011000124106~MAPTARGET~N07.9 6011000124106~MAPPRIORITY~7 6011000124106~MAPPRIORITY~4 6011000124106~MAPRULE~IFA 716999001 | Joubert syndrome with renal defect (disorder) | 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~Q87.0 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS CHOOSE Q44.7 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect (disorder) | 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULAR DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q63.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY CHOOSE Q77.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 721847002 | Joubert syndrome with congenital hepatic fibrosis (disorder) | 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 900000000000497000~MAPTARGET~XUtaV 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS Q04.3 6011000124106~MAPTARGET~Q04.3 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q15.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPPRIORITY~1 447562003~MAPTARGET~Q04.3 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPPRIORITY~5 6011000124106~MAPTARGET~Q77.2 6011000124106~MAPRULE~IFA 716998009 | Joubert syndrome with ocular defect | 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPTARGET~Q63.9 6011000124106~MAPTARGET~Q44.79 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 721847002 | Joubert syndrome with congenital hepatic fibrosis | 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS CHOOSE Q44.79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~6 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH RENAL DEFECT CHOOSE N07.9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 716998009 | Joubert syndrome with ocular defect (disorder) | 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect | 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULAR DEFECT CHOOSE H35.00 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~2 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH RENAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS Q04.3 6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect | 6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 716999001 | Joubert syndrome with renal defect | |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/363235000 |