Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Congenital microcephaly	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Lesion of bone	Primordial dwarfism	Skeletal dysplasia
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DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder)
	DONSON-related microcephaly, short stature, limb abnormalities spectrum
	DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum
	A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.

Id	1236845001
Status	Primitive

Has interpretation	Below reference range
Interprets	Birth head circumference

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

Associated morphology	Abnormal smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Body height

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified