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703525006: Anhidrotic ectodermal dysplasia with immune deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3009204015 Hypohidrotic ectodermal dysplasia with immune deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009547016 Anhidrotic ectodermal dysplasia with immune deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3009803016 Anhidrotic ectodermal dysplasia with immune deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5423625013 Anhidrotic ectodermal dysplasia with immunodeficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Hypohidrotic X-linked ectodermal dysplasia false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence Congenital false Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Skin structure false Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Skin structure false Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Dysplasia false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Skin structure false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence Congenital false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated with Chromosomal disorder (disorder) false Inferred relationship Some 4
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Congenital immunodeficiency disease true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Immunodeficiency associated with chromosomal abnormality false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Ectodermal dysplasia with hair-tooth-nail-sweating defect false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Hereditary disorder of immune system false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Hereditary disorder of the integument false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Has definitional manifestation Immune system finding false Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Some 3
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 7
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Some 5
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Tooth structure true Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Has interpretation Abnormal true Inferred relationship Some 5
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence Congenital true Inferred relationship Some 6
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Occurrence Congenital true Inferred relationship Some 7
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 7
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Finding site Nail unit structure false Inferred relationship Some 2
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Ectodermal syndrome with hair-tooth-sweating defects (disorder) true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Primary immune deficiency disorder true Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a Genetic disease true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a True Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Inferred relationship Some

Reference Sets

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