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732953008: syndroom van ectodermale dysplasie en sensorineurale doofheid (aandoening)


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
3498432015 Ectodermal dysplasia and sensorineural deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498433013 Ectodermal dysplasia and sensorineural deafness syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6215971000146110 ectodermale dysplasie-sensorineurale doofheid-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6215991000146114 ectodermale dysplasie-sensorineuraal gehoorverlies-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674371000146117 syndroom van ectodermale dysplasie en sensorineurale doofheid nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6674381000146115 syndroom van ectodermale dysplasie en sensorineurale doofheid (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3499921017 Syndrome with characteristics of hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. 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
Ectodermal dysplasia and sensorineural deafness syndrome Is a Ectodermal dysplasia true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Sensorineural hearing loss true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Congenital hearing disorder false Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Ear structure false Inferred relationship Some 3
Ectodermal dysplasia and sensorineural deafness syndrome Interprets Hearing true Inferred relationship Some 4
Ectodermal dysplasia and sensorineural deafness syndrome Interprets observatie betreffende functioneren false Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence Congenital false Inferred relationship Some 5
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Skin structure false Inferred relationship Some 5
Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 6
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence Congenital false Inferred relationship Some 6
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Ectoderm structure false Inferred relationship Some 6
Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence Congenital true Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Skin structure true Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Occurrence Congenital true Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Ectodermal dysplasia and sensorineural deafness syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 3
Ectodermal dysplasia and sensorineural deafness syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a Congenital hearing loss (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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