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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
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
3384301001000114 Schwerhörigkeit-Onychodystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5836811000241115 syndrome de surdité et onychodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5836811000241115 syndrome de surdité et onychodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3384301001000114 Schwerhörigkeit-Onychodystrophie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness with onychodystrophy syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with onychodystrophy syndrome Is a Congenital sensorineural hearing loss (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a Dystrophia unguium true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with onychodystrophy syndrome Is a Congenital anomaly of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with onychodystrophy syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with onychodystrophy syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Deafness with onychodystrophy syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with onychodystrophy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with onychodystrophy syndrome Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with onychodystrophy syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with onychodystrophy syndrome Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with onychodystrophy syndrome Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with onychodystrophy syndrome Finding site Skin appendage structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with onychodystrophy syndrome Associated morphology Morphologically abnormal structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with onychodystrophy syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness with onychodystrophy syndrome Is a Genetic disorder of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a Disorder of ear false Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness with onychodystrophy syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Deafness with onychodystrophy syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Deafness with onychodystrophy syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Deafness with onychodystrophy syndrome Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness with onychodystrophy syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
DOORS syndrome Is a True Deafness with onychodystrophy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant deafness with onychodystrophy syndrome Is a True Deafness with onychodystrophy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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