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1003374009: Microlissencephaly (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4168105019 Microlissencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4168106018 Microlissencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7692401000241116 microlissencéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3437921001000113 Mikrolissenzephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microlissencephaly Is a microcéphalie false Inferred relationship Some
Microlissencephaly Is a Lissencephaly true Inferred relationship Some
Microlissencephaly Occurrence Congenital true Inferred relationship Some 1
Microlissencephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microlissencephaly Associated morphology Congenital smallness false Inferred relationship Some 1
Microlissencephaly Finding site Brain structure true Inferred relationship Some 1
Microlissencephaly Is a Congenital microencephaly (disorder) true Inferred relationship Some
Microlissencephaly Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterized by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and fetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. Is a True Microlissencephaly Inferred relationship Some

Reference Sets

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