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773735007: Deafness with onychodystrophy syndrome (disorder)


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
3726043010 Deafness with onychodystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726044016 Deafness with onychodystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726045015 A group of rare genetic developmental defect during embryogenesis disorders with the association of sensorineural deafness and onychodystrophy (for example absent/hypoplastic finger and toenails) as well as brachydactyly and finger-like thumbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4212871000052119 syndrom med dövhet och onykodystrofi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deafness with onychodystrophy syndrome Is a Ectodermal dysplasia with nail defect true Inferred relationship Some
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Some 1
Deafness with onychodystrophy syndrome Is a Intellectual disability true Inferred relationship Some
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Deafness with onychodystrophy syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Some
Deafness with onychodystrophy syndrome Is a Dystrophia unguium true Inferred relationship Some
Deafness with onychodystrophy syndrome Finding site Ectoderm structure true Inferred relationship Some 2
Deafness with onychodystrophy syndrome Is a Congenital anomaly of nail false Inferred relationship Some
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Some 2
Deafness with onychodystrophy syndrome Interprets Hearing true Inferred relationship Some 5
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Deafness with onychodystrophy syndrome Finding site Ear structure false Inferred relationship Some 1
Deafness with onychodystrophy syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Deafness with onychodystrophy syndrome Is a Hereditary disorder of the integument true Inferred relationship Some
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Some 3
Deafness with onychodystrophy syndrome Occurrence Congenital false Inferred relationship Some 4
Deafness with onychodystrophy syndrome Is a Autosomal hereditary disorder true Inferred relationship Some
Deafness with onychodystrophy syndrome Associated morphology kongenital dysplasi false Inferred relationship Some 2
Deafness with onychodystrophy syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Deafness with onychodystrophy syndrome Finding site Nail unit structure true Inferred relationship Some 3
Deafness with onychodystrophy syndrome Associated morphology Dystrophy true Inferred relationship Some 3
Deafness with onychodystrophy syndrome Finding site Skin appendage structure false Inferred relationship Some
Deafness with onychodystrophy syndrome Finding site Skin structure false Inferred relationship Some 4
Deafness with onychodystrophy syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 4
Deafness with onychodystrophy syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Deafness with onychodystrophy syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Some
Deafness with onychodystrophy syndrome Is a Disorder of ear false Inferred relationship Some
Deafness with onychodystrophy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Deafness with onychodystrophy syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 6
Deafness with onychodystrophy syndrome Has interpretation Impaired true Inferred relationship Some 6
Deafness with onychodystrophy syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 7
Deafness with onychodystrophy syndrome Has interpretation Impaired true Inferred relationship Some 7
Deafness with onychodystrophy syndrome Is a Decreased hearing (finding) true Inferred relationship Some
Deafness with onychodystrophy syndrome Has interpretation Decreased true Inferred relationship Some 5
Deafness with onychodystrophy syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a True Deafness with onychodystrophy syndrome Inferred relationship Some
Autosomal dominant deafness with onychodystrophy syndrome Is a True Deafness with onychodystrophy syndrome Inferred relationship Some

This concept is not in any reference sets

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