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Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome (disorder)
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome
Syndrome that is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992.
syndroom van multipele sclerose, ichthyosis en stollingsfactor VIII-deficiëntie
syndroom van multipele sclerose, ichtyose en factor VIII-deficiëntie
syndroom van MS, ichthyosis en factor VIII-deficiëntie
Id733028000
StatusPrimitive
Associated morphologyDemyelination
Finding siteStructure of central nervous system
Pathological processAbnormal immune process
Associated morphologyDemyelination
Finding siteStructure of central nervous system
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyProliferative hyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsHemostatic function
Has interpretationAbnormal
InterpretsKeratinization
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG37.8
RuleTRUE
AdviceALWAYS G37.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ80.2
RuleTRUE
AdviceALWAYS Q80.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetD66
RuleTRUE
AdviceALWAYS D66
CorrelationSNOMED CT source code to target map code correlation not specified