SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/838441009
http://purl.bioontology.org/ontology/SNOMEDCT/838441009
Preferred Name

MASA syndrome
Definitions
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.
Synonyms
Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome
MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.
prefLabel
MASA syndrome
altLabel
Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome
MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder)
Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20200731
cui
C0795953
Has pathological process
CTV3ID
XVC0u
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
838441009
INACTIVATION INDICATOR
900000000000483008
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPADVICE~ALWAYS Q68.1
447562003~MAPTARGET~G11.4
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~F80.2
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~R26.89
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
447562003~MAPADVICE~ALWAYS G11.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPGROUP~4
900000000000497000~MAPTARGET~XVC0u
900000000000490003~VALUEID~900000000000483008
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q68.1
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS R26.89
6011000124106~MAPADVICE~ALWAYS F80.2
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