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734018003: Ectodermal dysplasia trichoodontoonychial type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3481880018 Ectodermal dysplasia trichoodontoonychial type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481881019 Ectodermal dysplasia trichoodontoonychial type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3481882014 A form of ectodermal dysplasia with hair, teeth and nail involvement. The disease has predominant characteristics of hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4015921000052110 ektodermal dysplasi av triko-odonto-onykial typ sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Ectodermal dysplasia with hair-tooth-nail defects true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Congenital anomaly of tooth (disorder) false Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Occurrence Congenital true Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Occurrence Congenital true Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Occurrence Congenital true Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Ectoderm structure true Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Tooth structure false Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Skin structure false Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology kongenital dysplasi false Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Ectoderm structure false Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Occurrence Congenital true Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Tooth structure true Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Skin structure false Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Dysplasia true Inferred relationship Some 3
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Nail unit structure true Inferred relationship Some 1
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a Partial congenital absence of teeth true Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Finding site Tooth structure true Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Congenital abnormal number true Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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