Achalasia of esophagus
Autosomal recessive hereditary disorder
Cardiovascular system hereditary disorder
Digestive system hereditary disorder
Hereditary disorder of nervous system
Moyamoya disease
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Moyamoya disease with early onset achalasia (disorder)
Moyamoya disease with early onset achalasia
Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases. Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis.
Id718551002
StatusPrimitive
OccurrenceInfancy
Finding siteBrain structure
Finding siteCardioesophageal junction structure
Finding siteCerebrovascular system structure
Has interpretationAbnormal
InterpretsMotility
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetI67.5
TermMojamoja-ziekte
SNOMED CT to ICD-10 extended map
TargetI67.5
RuleTRUE
AdviceALWAYS I67.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified