SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/25362006
http://purl.bioontology.org/ontology/SNOMEDCT/25362006
Preferred Name

HSMN IV
Synonyms
Heredoataxia hemeralopica polyneuritiformis
Refsum-Thiébaut disease
Refsum-Thiebaut disease
Hereditary sensory-motor neuropathy, type IV
Heredopathia atactica polyneuritiformis
Heredoataxic atactica polyneuritiformis
Hereditary motor and sensory neuropathy, type IV
Phytanic acid storage disease
Phytanic acid storage disease (disorder)
Refsum's disease
Hereditary motor and sensory neuropathy type IV
Refsum syndrome
Heredoataxic hemeralopica polyneuritiformis
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Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Heredoataxia hemeralopica polyneuritiformis
Refsum-Thiébaut disease
Refsum-Thiebaut disease
Hereditary sensory-motor neuropathy, type IV
Heredopathia atactica polyneuritiformis
Heredoataxic atactica polyneuritiformis
Hereditary motor and sensory neuropathy, type IV
Phytanic acid storage disease
Phytanic acid storage disease (disorder)
Refsum's disease
Hereditary motor and sensory neuropathy type IV
Refsum syndrome
Heredoataxic hemeralopica polyneuritiformis
See more
See less
prefLabel
HSMN IV
Type ID
900000000000003001
900000000000013009
CASE SIGNIFICANCE ID
900000000000020002
900000000000448009
900000000000017005
notation
25362006
Effective time
20020131
Active
1
Has finding site
subClassOf
Semantic type UMLS property
Cause of
type
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~IF ATAXIA CO-OCCURRENT AND DUE TO PHYTANIC ACID STORAGE DISEASE CHOOSE G60.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
6011000124106~MAPTARGET~
6011000124106~MAPCATEGORYID~447638001
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~G60.1
447562003~MAPGROUP~1
6011000124106~MAPADVICE~IF ATAXIA CO-OCCURRENT AND DUE TO PHYTANIC ACID STORAGE DISEASE CHOOSE R27.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPADVICE~ALWAYS G60.1
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPRULE~OTHERWISE TRUE
6011000124106~MAPCATEGORYID~447639009
6011000124106~MAPRULE~IFA 724769002 | Ataxia co-occurrent and due to phytanic acid storage disease |
6011000124106~MAPADVICE~ALWAYS G60.1
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
900000000000497000~MAPTARGET~F363.
6011000124106~MAPRULE~TRUE
6011000124106~MAPTARGET~R27.0
447562003~MAPTARGET~G60.1
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPPRIORITY~2
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DEFINITION STATUS ID
900000000000074008
tui
T047
CTV3ID
F363.
Occurs in
cui
C0034960
Has associated morphology
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