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771239007: dysplasie ectodermique hidrotique type Christianson-Fourie (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3705204017 Christianson Fourie syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705205016 Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705206015 Hidrotic ectodermal dysplasia Christianson Fourie type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
770381000241117 dysplasie ectodermique hidrotique type Christianson-Fourie (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
889471000172118 syndrome de Christianson-Fourie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
950201000172118 dysplasie ectodermique hidrotique type Christianson-Fourie fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) localisation d'une constatation (attribut) Nail unit structure true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) Genetic disorder of nail (disorder) true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) survenue (attribut) congénital false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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