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Hidrotic ectodermal dysplasia Halal type (disorder)
Hidrotic ectodermal dysplasia Halal type
Ectodermal dysplasia with skin anomaly and intellectual disability
Halal Setton Wang syndrome
A form of ectodermal dysplasia syndrome with characteristics of trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
hidrotische ectodermale dysplasie Halal-type
syndroom van Halal-Setton-Wang
Halal-Setton-Wang-syndroom
ectodermale dysplasie met huidafwijking en intellectuele achterstand
Id721147000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteHair structure
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
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified