SNOMED CT, US Edition

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/SNOMEDCT/726031001
http://purl.bioontology.org/ontology/SNOMEDCT/726031001
Preferred Name

CAMOS syndrome
Definitions
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
Synonyms
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
SCAR5 - spinocerebellar ataxia autosomal recessive 5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.

A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
prefLabel
CAMOS syndrome
altLabel
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
SCAR5 - spinocerebellar ataxia autosomal recessive 5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
Has interpretation
Type ID
900000000000003001
900000000000013009
Semantic type UMLS property
Has finding site
interprets
Effective time
20170731
cui
C4511633
Has pathological process
CTV3ID
XUvjh
DEFINITION STATUS ID
900000000000074008
CASE SIGNIFICANCE ID
900000000000448009
900000000000017005
Occurs in
tui
T047
Active
1
Has associated morphology
notation
726031001
type
subClassOf
Subset member
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~F78.A9
447562003~MAPTARGET~H47.2
6011000124106~MAPADVICE~ALWAYS F78.A9 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
447562003~MAPADVICE~ALWAYS Q07.8
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
447562003~MAPGROUP~2
447562003~MAPADVICE~ALWAYS F79.9
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
447562003~MAPGROUP~1
6011000124106~MAPTARGET~F79
6011000124106~MAPTARGET~Q82.8
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS H47.22
447562003~MAPTARGET~Q07.8
6011000124106~MAPTARGET~G11.8
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~Q82.8
447562003~MAPPRIORITY~1
447562003~MAPTARGET~F79.9
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS G11.8
447562003~MAPGROUP~4
6011000124106~MAPGROUP~4
447562003~MAPADVICE~ALWAYS H47.2
447562003~MAPADVICE~ALWAYS Q82.8
6011000124106~MAPPRIORITY~1
6011000124106~MAPADVICE~ALWAYS Q82.8
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~H47.22
6011000124106~MAPRULE~TRUE
447562003~MAPGROUP~3
6011000124106~MAPGROUP~3
900000000000509007~ACCEPTABILITYID~900000000000549004
447562003~MAPTARGET~G11.1
900000000000497000~MAPTARGET~XUvjh
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