lissencephaly with cerebellar hypoplasia type D

Go to external page http://purl.obolibrary.org/obo/MONDO_0015037


Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. [ Orphanet:100014 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:Q04.3 (Orphanet:100014)
  • UMLS:CN228903 (MONDO:equivalentTo)
  • SCTID:715821000 (MONDO:equivalentTo)
  • Orphanet:100014 (MONDO:equivalentTo)
  • UMLS:C4274991 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.

exactMatch

http://www.orpha.net/ORDO/Orphanet_100014

http://linkedlifedata.com/resource/umls/id/CN228903

http://identifiers.org/snomedct/715821000

http://linkedlifedata.com/resource/umls/id/C4274991

id

MONDO:0015037

Term relations