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718719001: Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3313323010 Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313324016 Lissencephaly type 3 familial fetal akinesia sequence syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313329014 Lissencephaly type 3 familial foetal akinesia sequence syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3313330016 This syndrome has characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a Lissencephaly false Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Finding site Structure of central nervous system (body structure) false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 3
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Finding site Brain structure true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Is a Microlissencephaly true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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