1279971008: heterozygote genmutatie in NFKBIA aangetoond (bevinding)

SNOMED CT Concept\Clinical finding (finding)\...

\Laboratory test finding (finding)\Genetic finding\Genetic finding detected\Heterozygous NFKBIA gene mutation detected (finding)

\Procedure related finding\Evaluation finding\Genetic finding\Genetic finding detected\Heterozygous NFKBIA gene mutation detected (finding)

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

Descriptions:

Id Description Lang Type Status Case? Module

5234844018 Heterozygous NFKBIA gene mutation detected (finding) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234845017 Heterozygous NFKBIA gene mutation detected en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234847013 Heterozygous NFKB inhibitor alpha gene mutation detected en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234848015 Heterozygous NFKBIA gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5234849011 Heterozygous nuclear factor of kappa light polypeptide gene enhancer In B-cells inhibitor, alpha gene mutation positive en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

14340241000146112 heterozygote genmutatie in NFKBIA aangetoond (bevinding) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14340251000146110 heterozygote mutatie in gen voor 'nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor' aanwezig nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14340261000146113 heterozygote genmutatie in NFKBIA aangetoond 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
Heterozygous NFKBIA gene mutation detected (finding)	Is a	Genetic finding detected	true	Inferred relationship	Some
Heterozygous NFKBIA gene mutation detected (finding)	Interprets	Genetic test (procedure)	true	Inferred relationship	Some	1
Heterozygous NFKBIA gene mutation detected (finding)	Has interpretation	Detected	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets