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1354646005: Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jan 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5423622011 Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423623018 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423624012 Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423626014 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA GOF (gain of function) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423627017 Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423622011 Anhidrotic ectodermal dysplasia with immune deficiency due to NFKBIA gain of function mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423623018 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423624012 Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423626014 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA GOF (gain of function) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5423627017 Anhidrotic ectodermal dysplasia with immune deficiency due to nuclear factor kappa-B inhibitor alpha, gain of function mutation 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
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Hereditary disorder of immune system true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a Anhidrotic ectodermal dysplasia with immune deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Interprets Sweating, function (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Has interpretation Abnormal true Inferred relationship Existential restriction modifier (core metadata concept) 5
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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