Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple malformation syndrome with facial-limb defects as major feature	Osteolysis
\|	\|	\|	\|	\|	\|

Autosomal recessive distal osteolysis syndrome (disorder)
	Autosomal recessive distal osteolysis syndrome
	Petit Fryns syndrome Distal osteolysis, short stature and intellectual disability
	Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.
	autosomaal recessief syndroom van distale osteolyse
	syndroom van Petit-Fryns syndroom van distale osteolyse, kleine gestalte en verstandelijke handicap syndroom van distale osteolyse, kleine gestalte en mentale retardatie syndroom van distale osteolyse, kleine gestalte en verstandelijke beperking

Id	715487005
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Limb 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	Osteolysis
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5
Correlation	SNOMED CT source code to target map code correlation not specified