773735007: Deafness with onychodystrophy syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome

\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\constatation à propos d'un ongle\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Deafness with onychodystrophy syndrome

\constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Deafness with onychodystrophy syndrome
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Deafness with onychodystrophy syndrome

\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome

\Disease\Genetic disease\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection dégénérative\onychodystrophie\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Sensorineural hearing loss\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\Disease\affection d'une extrémité\Disorder of digit\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome
\Disease\trouble du développement\Developmental abnormality of nail\anomalie congénitale de l'ongle (trouble)\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Ectodermal dysplasia with nail defect	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Intellectual disability	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	onychodystrophie	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	localisation d'une constatation (attribut)	Ectoderm structure	true	Inferred relationship	Some	2
Deafness with onychodystrophy syndrome	est un(e) (attribut)	anomalie congénitale de l'ongle (trouble)	false	Inferred relationship	Some
Deafness with onychodystrophy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Deafness with onychodystrophy syndrome	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	5
Deafness with onychodystrophy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Deafness with onychodystrophy syndrome	localisation d'une constatation (attribut)	oreille	false	Inferred relationship	Some	1
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Deafness with onychodystrophy syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Autosomal hereditary disorder	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Deafness with onychodystrophy syndrome	est un(e) (attribut)	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	localisation d'une constatation (attribut)	Nail unit structure	true	Inferred relationship	Some	3
Deafness with onychodystrophy syndrome	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	true	Inferred relationship	Some	3
Deafness with onychodystrophy syndrome	localisation d'une constatation (attribut)	Skin appendage structure	false	Inferred relationship	Some
Deafness with onychodystrophy syndrome	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	4
Deafness with onychodystrophy syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Deafness with onychodystrophy syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	2
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	affection de l'oreille	false	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	est un(e) (attribut)	Decreased hearing	true	Inferred relationship	Some
Deafness with onychodystrophy syndrome	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	5
Deafness with onychodystrophy syndrome	localisation d'une constatation (attribut)	structure du système auditif	true	Inferred relationship	Some	1

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

This concept is not in any reference sets

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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