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715406003: lissencéphalie type 1 inexpliquée (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1012631000172112 lissencéphalie type 1 inexpliquée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302493017 Isolated lissencephaly type 1 without known genetic defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302494011 Isolated lissencephaly type 1 without known genetic defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747461000241115 lissencéphalie type 1 inexpliquée (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3302495012 A diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. 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
lissencéphalie type 1 inexpliquée morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
lissencéphalie type 1 inexpliquée Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
lissencéphalie type 1 inexpliquée est un(e) (attribut) Type 1 lissencephaly true Inferred relationship Some
lissencéphalie type 1 inexpliquée morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
lissencéphalie type 1 inexpliquée survenue (attribut) congénital false Inferred relationship Some 2
lissencéphalie type 1 inexpliquée localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 2
lissencéphalie type 1 inexpliquée morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
lissencéphalie type 1 inexpliquée localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3
lissencéphalie type 1 inexpliquée localisation d'une constatation (attribut) structure de l'encéphale true Inferred relationship Some 1
lissencéphalie type 1 inexpliquée survenue (attribut) congénital 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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