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syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke beperking en malformatie van oor (aandoening)
syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke beperking en malformatie van oor
CHIME-syndroom
syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, mentale retardatie en malformatie van oor
neuro-ectodermaal syndroom Zunich-type
syndroom van Zunich-Kaye
syndroom van coloboom, congenitale hartafwijking, ichtyosiforme dermatose, verstandelijke handicap en malformatie van oor
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
Zunich Kaye syndrome
CHIME syndrome
CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
Neuroectodermal dysplasia CHIME type
A rare ectodermal dysplasia syndrome to date described in 8 cases. The syndrome has characteristics of early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual disability and characteristic facial features. Ears are low-set with thick over-folded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent, cardiac defects, pectus excavatum and supernumerary nipples. Caused by mutations in the glycosylphosphatidylinositol gene PIGL located to 17p12-p11.2. Transmission is autosomal recessive.
Id720639008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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 morphologyfusiedefect
Finding sitestructuur van bulbus oculi
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
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