10q partial trisomy syndrome	Autosomal recessive hereditary disorder	Congenital micrognathism	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Longitudinal deficiency of limb	Multiple malformation syndrome with facial-limb defects as major feature
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Distal limb deficiency with micrognathia syndrome (disorder)
	Distal limb deficiency with micrognathia syndrome
	Buttiens Fryns syndrome 10q24 microduplication syndrome
	Syndrome with a combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. It has been reported in four patients; two of them were siblings and had moderate intellectual deficiency. Two non-related subjects also had severe myopia, bilateral conductive hearing loss and a renal change, referred to as oligomeganephronia, or renal hypoplasia. A 10q24 duplication or triplication was detected in all these patients, similar to the duplication detected in an isolated form of split hand foot malformation.
	syndroom van afwezige distale extremiteit en micrognathie
	10q24-microduplicatiesyndroom syndroom van Buttiens-Fryns

Id	722429003
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Bone structure of mandible
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Partial trisomy
Finding site	Chromosome pair 10
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Abnormally short growth
Finding site	Entire limb
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q92.3
Rule	TRUE
Advice	ALWAYS Q92.3
Correlation	SNOMED CT source code to target map code correlation not specified