754097021000119101: drager van Joubert-syndroom met oculorenale afwijkingen (bevinding)

SNOMED CT Concept\Clinical finding (finding)\Carrier of disorder\Genetic disorder carrier\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

14437361000146111 drager van cerebello-oculorenaalsyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437371000146117 drager van syndroom van Joubert met syndroom van Senior-Loken nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437381000146115 drager van Dekaban-Arima-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437391000146118 drager van Joubert-syndroom met oculorenale afwijkingen (bevinding) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437401000146115 drager van JS type B nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437411000146118 drager van Joubert-syndroom met oculorenale afwijkingen nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437421000146111 drager van JS-OR nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437431000146113 drager van CORS nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14437441000146117 drager van syndroom van Arima nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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