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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3313324016 Lissencephaly type 3 familial fetal akinesia sequence syndrome en Synonym Active Case insensitive SNOMED CT core
3313329014 Lissencephaly type 3 familial foetal akinesia sequence syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Pathological process Pathological developmental process true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a Microlissencephaly true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology Congenital smallness true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a Lissencephaly false Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology Developmental abnormality false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome Occurrence Congenital false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome Finding site Structure of central nervous system false Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology Congenital anomaly false Inferred relationship Some 3
Lissencephaly type 3 familial fetal akinesia sequence syndrome Finding site Brain structure false Inferred relationship Some 3
Lissencephaly type 3 familial fetal akinesia sequence syndrome Occurrence Congenital true Inferred relationship Some 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Finding site Brain structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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