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Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome
EEM syndrome
Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie
EEM-syndroom
Id720856002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteMacula lutea structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified