FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

715406003: Isolated lissencephaly type 1 without known genetic defect (disorder)

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
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
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
3302493017 Isolated lissencephaly type 1 without known genetic defect (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
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
3432871001000116 Lissenzephalie Typ 1, isolierte, ohne bekannten genetischen Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012631000172112 lissencéphalie type 1 inexpliquée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1012631000172112 lissencéphalie type 1 inexpliquée fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3432871001000116 Lissenzephalie Typ 1, isolierte, ohne bekannten genetischen Defekt de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated lissencephaly type 1 without known genetic defect Is a Type 1 lissencephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Isolated lissencephaly type 1 without known genetic defect Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated lissencephaly type 1 without known genetic defect Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated lissencephaly type 1 without known genetic defect Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Isolated lissencephaly type 1 without known genetic defect Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated lissencephaly type 1 without known genetic defect Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Isolated lissencephaly type 1 without known genetic defect Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated lissencephaly type 1 without known genetic defect Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated lissencephaly type 1 without known genetic defect Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Isolated lissencephaly type 1 without known genetic defect Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start