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1366698006: Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
5461120013 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5461122017 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB GOF mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5461123010 Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB 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 IKBKB gain of function mutation (disorder) Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a Hereditary disorder of immune system true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Is a Anhidrotic ectodermal dysplasia with immune deficiency (disorder) true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 5
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Has interpretation Abnormal true Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence Congenital true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence Congenital true Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Finding site Tooth structure true Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Occurrence Congenital true Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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