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1279971008: 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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Heterozygous NFKBIA gene mutation detected (finding) Is a Positive genetic finding true Inferred relationship Existential restriction modifier (core metadata concept)
Heterozygous NFKBIA gene mutation detected (finding) Interprets Genetic test (procedure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Heterozygous NFKBIA gene mutation detected (finding) Has interpretation Detected (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

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