SNOMED CT

Last uploaded: April 29, 2019
Preferred Name

Familial aplasia of the vermis

Synonyms

Familial aplasia of the vermis (disorder)

ID

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

Active

1

altLabel

Familial aplasia of the vermis (disorder)

CASE SIGNIFICANCE ID

900000000000017005

900000000000448009

CTV3ID

X77rY

cui

C0431399

DEFINITION STATUS ID

900000000000074008

Effective time

20020131

Has associated morphology

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

Has finding site

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

INACTIVATION INDICATOR

723278000

notation

253175003

Occurs in

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

prefLabel

Familial aplasia of the vermis

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 |

6011000124106~MAPTARGET~Q77.2

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

900000000000509007~ACCEPTABILITYID~900000000000548007

6011000124106~MAPTARGET~N07.9

900000000000497000~MAPTARGET~X77rY

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

900000000000509007~ACCEPTABILITYID~900000000000549004

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

900000000000490003~VALUEID~723278000

900000000000508004~ACCEPTABILITYID~900000000000549004

tui

T047

Type ID

900000000000013009

900000000000003001

subClassOf

http://purl.bioontology.org/ontology/SNOMEDCT/253174004

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/X77rY RCD CUI
http://purl.bioontology.org/ontology/RCD/X77rY RCD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Familial_aplasia_of_the_vermis RPO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU039930 OMIM CUI
http://purl.bioontology.org/ontology/MESH/C536293 MESH CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000200 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM CUI
http://purl.bioontology.org/ontology/RCTV2/P22y100 RCTV2 LOOM
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI