Autosomal recessive ichthyosis	Congenital anomaly of digit	Multiple malformation syndrome with facial-limb defects as major feature
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Ichthyosis, oral and digital anomalies syndrome (disorder)
	Ichthyosis, oral and digital anomalies syndrome
	Clayton-Smith Donnai syndrome
	This syndrome has characteristics of ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.
	syndroom van ichtyose, orale en digitale anomalieën
	syndroom van Clayton Smith-Donnai

Id	732950006
Status	Primitive

Associated morphology	Hyperkeratosis
Finding site	Entire skin
Occurrence	Congenital
Pathological process	Pathological developmental process

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

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

Has interpretation	Abnormal
Interprets	Keratinization

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q80.9
Rule	TRUE
Advice	ALWAYS Q80.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q38.6
Rule	TRUE
Advice	ALWAYS Q38.6
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q74.0
Rule	TRUE
Advice	ALWAYS Q74.0
Correlation	SNOMED CT source code to target map code correlation not specified