SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/719021005
http://purl.bioontology.org/ontology/SNOMEDCT/719021005
Preferred Name

DK phocomelia syndrome

Definitions
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.
Synonyms
Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
Von Voss-Cherstvoy syndrome
DK phocomelia syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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