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SNOMED CT

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/SNOMEDCT/93466004
http://purl.bioontology.org/ontology/SNOMEDCT/93466004
Preferred Name

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Synonyms
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)
Perrault syndrome
Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)
Perrault syndrome
Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance
prefLabel
Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
notation
93466004
Effective time
20020131
Active
1
Has finding site
interprets
Has pathological process
subClassOf
Semantic type UMLS property
type
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q96.9
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q96.9
900000000000497000~MAPTARGET~XUNzm
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~Q87.8
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS Q87.8
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~H90.5
6011000124106~MAPADVICE~ALWAYS H90.5
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DEFINITION STATUS ID
900000000000074008
tui
T047
T019
CTV3ID
XUNzm
Occurs in
cui
C0685838
Has associated morphology
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