lissencephaly with cerebellar hypoplasia

Go to external page http://purl.obolibrary.org/obo/MONDO_0019450


Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. [ Orphanet:86823 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4274995 (MONDO:equivalentTo)
  • Orphanet:86823 (MONDO:equivalentTo)
  • SCTID:715817007 (MONDO:equivalentTo)
  • ICD10:Q04.3 (Orphanet:86823)
Subsets

ordo_group_of_disorders

abbreviation
LCH [ Orphanet:86823 ]

definition

Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F.

exactMatch

http://linkedlifedata.com/resource/umls/id/C4274995

http://identifiers.org/snomedct/715817007

http://www.orpha.net/ORDO/Orphanet_86823

id

MONDO:0019450

Term relations