Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Congenital achalasia of esophagus
Congenital anomaly of ear with impairment of hearing
Congenital anomaly of inner ear
Congenital deafness
Congenital deficiency of pigment of skin
Developmental hereditary disorder
Digestive system hereditary disorder
Genetic disorder of skin pigmentation
Hearing loss associated with syndrome
Multiple system malformation syndrome
Short stature disorder
Vitiligo
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Deafness, vitiligo, achalasia syndrome (disorder)
Deafness, vitiligo, achalasia syndrome
Syndrome with the association of congenital deafness, short stature, vitiligo, muscle wasting, and achalasia. It has been described in a brother and his sister born to first-cousin parents. It is likely to be transmitted as an autosomal recessive trait.
syndroom van doofheid, vitiligo en achalasie
Id733069009
StatusPrimitive
Associated morphologyHypopigmentation
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsMotility
Finding siteCardioesophageal junction structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteInner ear structure
OccurrenceCongenital
Pathological processPathological developmental process
InterpretsHearing
InterpretsHeight / growth measure
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