SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/719139003
http://purl.bioontology.org/ontology/SNOMEDCT/719139003
Preferred Name

Pettigrew syndrome
Definitions
A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities. A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. A rare central nervous system malformation characterised by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
Synonyms
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A central nervous system malformation with characteristics of severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead) and brain imaging abnormalities.

A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.

A rare central nervous system malformation characterised by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
prefLabel
Pettigrew syndrome
altLabel
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20170131
cui
C0796254
Has pathological process
CTV3ID
XUtra
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
719139003
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
447562003~MAPTARGET~Q03.1
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
900000000000497000~MAPTARGET~XUtra
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q04.8
6011000124106~MAPADVICE~ALWAYS Q04.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPTARGET~Q04.8
6011000124106~MAPRULE~TRUE
447562003~MAPADVICE~ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPADVICE~ALWAYS Q03.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000509007~ACCEPTABILITYID~900000000000549004
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