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SNOMED CT

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/SNOMEDCT/111504002
http://purl.bioontology.org/ontology/SNOMEDCT/111504002
Preferred Name

Walker-Warburg congenital muscular dystrophy
Synonyms
Walker-Warburg congenital muscular dystrophy (disorder)
Hydrocephalus, agyria and retinal dysplasia
Walker Warburg syndrome
HARD (hydrocephalus, agyria, retinal dysplasia) syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Walker-Warburg congenital muscular dystrophy (disorder)
Hydrocephalus, agyria and retinal dysplasia
Walker Warburg syndrome
HARD (hydrocephalus, agyria, retinal dysplasia) syndrome
prefLabel
Walker-Warburg congenital muscular dystrophy
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
notation
111504002
Effective time
20020131
Active
1
Has finding site
Has clinical course
INACTIVATION INDICATOR
723277005
Has pathological process
subClassOf
Semantic type UMLS property
type
Subset member
6011000124106~MAPADVICE~ALWAYS G71.0
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~X708a
900000000000490003~VALUEID~723277005
447562003~MAPTARGET~Q89.8
447562003~MAPTARGET~G71.2
6011000124106~MAPTARGET~G71.09
6011000124106~MAPGROUP~1
447562003~MAPADVICE~ALWAYS G71.2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPTARGET~G71.0
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q89.8
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS G71.09
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
X708a
Occurs in
cui
C0265221
Has associated morphology
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