Autosomal dominant hereditary disorder	Brachydactyly syndrome type E	Cardiovascular system hereditary disorder	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Hypertensive disorder
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Brachydactyly and arterial hypertension syndrome (disorder)
	Brachydactyly and arterial hypertension syndrome
	Bilginturan brachydactyly Brachydactyly type E with short stature and hypertension Bilginturan syndrome
	A rare genetic brachydactyly syndrome with the association of brachydactyly type E and hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and if untreated, most patients will have had a stroke by the age of 50.
	syndroom van brachydactylie en arteriële hypertensie
	Bilginturan-brachydactylie syndroom van Bilginturan

Id	720568003
Status	Primitive

Has interpretation	Increased
Interprets	Blood pressure

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

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

Finding site	Systemic circulatory system structure
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q71.8
Rule	TRUE
Advice	ALWAYS Q71.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	I10
Rule	TRUE
Advice	ALWAYS I10
Correlation	SNOMED CT source code to target map code correlation not specified