SNOMED CT

Last uploaded: April 29, 2019
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

http://purl.bioontology.org/ontology/SNOMEDCT/45486003

Has finding site

http://purl.bioontology.org/ontology/SNOMEDCT/58501004

notation

716997004

Occurs in

http://purl.bioontology.org/ontology/SNOMEDCT/255399007

prefLabel

Joubert syndrome

Subset member

6011000124106~MAPPRIORITY~1

6011000124106~MAPRULE~OTHERWISE TRUE

6011000124106~MAPRULE~IFA 716999001 | Joubert syndrome with renal defect (disorder) |

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~5

6011000124106~MAPTARGET~Q63.9

6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect |

900000000000497000~MAPTARGET~XUtaV

6011000124106~MAPTARGET~Q77.2

6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect |

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~N07.9

6011000124106~MAPTARGET~H35.00

447562003~MAPGROUP~1

6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY CHOOSE Q77.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

447562003~MAPCATEGORYID~447637006

6011000124106~MAPCATEGORYID~447637006

6011000124106~MAPRULE~IFA 721847002 | Joubert syndrome with congenital hepatic fibrosis (disorder) |

6011000124106~MAPRULE~IFA 721847002 | Joubert syndrome with congenital hepatic fibrosis |

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~MAPPRIORITY~4

6011000124106~MAPRULE~IFA 721873007 | Joubert syndrome with orofaciodigital defect (disorder) |

6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OROFACIODIGITAL DEFECT CHOOSE Q04.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

900000000000508004~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~Q44.7

6011000124106~MAPRULE~IFA 716999001 | Joubert syndrome with renal defect |

6011000124106~MAPGROUP~1

6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q63.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS CHOOSE Q44.7 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPCATEGORYID~447639009

6011000124106~MAPRULE~IFA 721862000 | Joubert syndrome with oculorenal defect (disorder) |

6011000124106~MAPGROUP~2

6011000124106~CORRELATIONID~447561005

6011000124106~MAPTARGET~Q04.3

6011000124106~MAPCATEGORYID~447638001

6011000124106~MAPPRIORITY~7

6011000124106~MAPPRIORITY~3

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~Q15.9

6011000124106~MAPGROUP~3

6011000124106~MAPADVICE~IF JOUBERT SYNDROME WITH OCULORENAL DEFECT CHOOSE Q15.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT

6011000124106~MAPTARGET~

447562003~MAPADVICE~ALWAYS Q04.3

6011000124106~MAPADVICE~ALWAYS Q04.3

6011000124106~MAPRULE~IFA 716998009 | Joubert syndrome with ocular defect (disorder) |

447562003~MAPRULE~TRUE

6011000124106~MAPRULE~IFA 733418003 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy |

447562003~MAPPRIORITY~1

6011000124106~MAPRULE~IFA 716998009 | Joubert syndrome with ocular defect |

6011000124106~MAPTARGET~Q87.0

447562003~CORRELATIONID~447561005

447562003~MAPTARGET~Q04.3

6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA

6011000124106~MAPPRIORITY~2

6011000124106~MAPPRIORITY~6

tui

T047

Type ID

900000000000013009

900000000000003001

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/253175003

http://purl.bioontology.org/ontology/SNOMEDCT/85995004

http://purl.bioontology.org/ontology/SNOMEDCT/363235000

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http://purl.bioontology.org/ontology/RCD/X77rY RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Joubert_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://www.limics.org/hrdo/rdfns#pat_id_1022 HRDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039930 OMIM CUI
http://purl.obolibrary.org/obo/MONDO_0018772 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018772 MONDO LOOM
http://purl.bioontology.org/ontology/MESH/C536293 MESH CUI
http://purl.obolibrary.org/obo/DOID_0050777 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050777 NIFSTD LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU000200 OMIM CUI
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/213300 OMIM CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_475 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_475 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM