About: Congenital Cerebellar Hypoplasia     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Congenital Cerebellar Hypoplasia
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Congenital Cerebellar Hypoplasia
UMLS_CUI
  • C0266470
Contributing_Source
  • NICHD
FULL_SYN
  • Congenital Cerebellar HypoplasiaPTNCI
  • Congenital Cerebellar HypoplasiaPTNICHD
DEFINITION
  • Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.NCI
code
  • C98890
http://linked.open...y/mesh/hasConcept
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