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Curly hair, acral keratoderma, caries syndrome (disorder)
Curly hair, acral keratoderma, caries syndrome
CHACS - curly hair, acral keratoderma, caries syndrome
An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
syndroom van gekruld haar, acrale keratodermie en cariƫs
CHACS
CHAC-syndroom
Id763686007
StatusPrimitive
Associated morphologyHyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteTooth structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsSweating
Associated morphologyHyperkeratosis
Finding siteEntire skin of sole of foot
Associated morphologyHyperkeratosis
Finding siteEntire skin of palmar area of hand
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