Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Congenital anomaly of optic nerve
Congenital atrophy of optic nerve
Congenital degeneration of nervous system
Cutaneous vascular malformation
Developmental hereditary disorder
Early onset cerebellar ataxia
Hereditary ataxia
Hereditary degenerative disease of central nervous system
Hereditary disorder of the integument
Inherited optic neuropathy
Intellectual disability
|||||||||||||
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)
CAMOS syndrome
CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome
SCAR5 - spinocerebellar ataxia autosomal recessive 5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome
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.
syndroom van cerebellaire ataxie, verstandelijke beperking, opticusatrofie en huidafwijkingen
SCAR-5
autosomaal recessieve spinocerebellaire ataxie type 5
syndroom van cerebellaire ataxie, mentale retardatie, opticusatrofie en huidafwijkingen
syndroom van cerebellaire ataxie, verstandelijke handicap, opticusatrofie en huidafwijkingen
Id726031001
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBlood vessel structure of skin
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteCerebellar structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAtrophy
Finding siteOptic nerve structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ07.8
RuleTRUE
AdviceALWAYS Q07.8
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8
CorrelationSNOMED CT source code to target map code correlation not specified