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754097021000119101: Carrier of Joubert syndrome with oculorenal defect (finding)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5198381018 Carrier of Joubert syndrome type 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5198382013 Carrier of Joubert syndrome with oculorenal defect (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5223678010 Carrier of Joubert syndrome with oculorenal defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5223679019 Carrier of cerebello-oculo-renal syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Carrier of Joubert syndrome with oculorenal defect (finding) Is a Genetic disorder carrier true Inferred relationship Some
Carrier of Joubert syndrome with oculorenal defect (finding) Interprets General clinical state 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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