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771239007: hidrotische ectodermale dysplasie Christianson-Fourie-type (aandoening)


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
6361541000146117 syndroom van Christianson-Fourie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6361551000146119 Christianson-Fourie-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12689911000146119 hidrotische ectodermale dysplasie Christianson-Fourie-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12741111000146116 hidrotische ectodermale dysplasie Christianson-Fourie-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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) Is a Hereditary disorder of the integument true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Occurrence Congenital true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Occurrence Congenital true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site Skin structure false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Occurrence Congenital true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a Ectodermal dysplasia with hair-nail defect true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Occurrence Congenital false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site Ectoderm structure false Inferred relationship Some 3
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Finding site Nail unit structure true Inferred relationship Some 4
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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