|||||||
syndroom van alopecia, anosmie, geleidingsgehoorverlies en hypogonadisme (aandoening)
syndroom van alopecia, anosmie, geleidingsgehoorverlies en hypogonadisme
syndroom van Johnson-McMillin
neuro-ectodermaal syndroom van Johnson
syndroom van alopecia, anosmie, conductief gehoorverlies en hypogonadisme
Johnson neuroectodermal syndrome
Alopecia, anosmia, deafness, hypogonadism syndrome
Johnson McMillin syndrome
Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.
Id721584005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van auris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
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