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771239007: Hidrotic ectodermal dysplasia Christianson Fourie type (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705204017 Christianson Fourie syndrome en Synonym Active Case sensitive SNOMED CT core
3705205016 Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3705206015 Hidrotic ectodermal dysplasia Christianson Fourie type en Synonym Active Initial character case insensitive SNOMED CT core
3705207012 A rare ectodermal dysplasia syndrome with characteristics of tricho and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology Congenital dysplasia false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type Finding site Ectoderm structure false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type Finding site Ectoderm structure true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Finding site Hair structure true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type Pathological process Pathological developmental process true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type Pathological process Pathological developmental process true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type Pathological process Pathological developmental process false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type Pathological process Pathological developmental process true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type Finding site Nail unit structure true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type Associated morphology Dysplasia true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Is a Genetic disorder of nail true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Is a Developmental hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Is a Hereditary disorder of the integument true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence Congenital true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence Congenital true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Finding site Skin structure false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence Congenital true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type Occurrence Congenital false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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