Auditory system hereditary disorder	Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Coloboma of eye	Congenital heart disease	Developmental hereditary disorder	Ectodermal dysplasia	Hearing loss associated with syndrome	Hereditary disorder of the integument	Hereditary disorder of the visual system	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
	Neuroectodermal dysplasia CHIME type Zunich Kaye syndrome CHIME syndrome CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
	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.
	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

Id	720639008
Status	Primitive

Associated morphology	Developmental failure of fusion
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Heart structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Ectoderm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site

Structure of auditory system

Interprets

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified