Autosomal recessive hereditary disorder	Congenital thrombocytopenia	Developmental hereditary disorder	Encephalocele	Genitourinary congenital anomalies	Hereditary disorder of musculoskeletal system	Hereditary disorder of nervous system	Hereditary thrombocytopenic disorder	Multiple malformation syndrome with limb defect as major feature
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DK phocomelia syndrome (disorder)
	DK phocomelia syndrome
	Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome Von Voss-Cherstvoy syndrome
	A very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities and thrombocytopenia. Less than 15 cases have been reported. The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal. Pathogenesis and cause of this syndrome are unknown. Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.
	syndroom van focomelie, trombocytopenie, encephalocele en urogenitale misvormingen
	syndroom van von Voss-Cherstvoy DK-focomeliesyndroom syndroom van focomelie, trombocytopenie, encefalokèle en urogenitale misvormingen

Id	719021005
Status	Primitive

Associated morphology	Developmental failure of fusion
Finding site	Bone structure of cranium
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Platelet count

Associated morphology	Hernia
Finding site	Brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Morphologically abnormal structure
Finding site	Structure of genitourinary system
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Abnormal
Interprets	Hemostatic function

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified