46,XX disorder of sex development	Ambiguous genitalia	Autosomal recessive hereditary disorder	Congenital anomaly of skeletal bone	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Multiple system malformation syndrome	Pseudohermaphroditism	Reproductive system hereditary disorder
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46,XX disorder of sex development with skeletal anomalies syndrome (disorder)
	46,XX disorder of sex development with skeletal anomalies syndrome
	Female pseudohermaphroditism with skeletal anomalies syndrome
	Syndrome that is characterized by primary amenorrhea, ambiguous external genitalia and bone abnormalities for example hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads. It has been described in two sisters born to consanguineous parents.
	syndroom van 46,XX-geslachtsontwikkelingsstoornis en skeletafwijkingen

Id	733621007
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q56.2
Rule	TRUE
Advice	ALWAYS Q56.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q79.9
Rule	TRUE
Advice	ALWAYS Q79.9
Correlation	SNOMED CT source code to target map code correlation not specified