Autosomal recessive hereditary disorder
Cerebellar ataxia
Developmental hereditary disorder
Ectodermal dysplasia
Hereditary ataxia
Hereditary disorder of the integument
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Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)
Cerebellar ataxia and ectodermal dysplasia
Cerebellar ataxia co-occurrent with ectodermal dysplasia
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.
Id715371006
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteCerebellar structure
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG11.1
TermVroeg optredende cerebellaire ataxie
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
SNOMED CT to ICD-10 extended map
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
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4
CorrelationSNOMED CT source code to target map code correlation not specified