1208614008: Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\constatation à propos d'un ongle\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Integumentary system finding\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\Genetic disorder of nail (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection dégénérative\onychodystrophie\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\affection d'une extrémité\Disorder of digit\Disorder of nail (disorder)\onychodystrophie\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss (disorder)\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Deafness with onychodystrophy syndrome\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Autosomal dominant deafness with onychodystrophy syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with nail defect\Deafness with onychodystrophy syndrome\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant 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\Autosomal dominant deafness with onychodystrophy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4965380013	Autosomal dominant deafness with onychodystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965381012	Autosomal dominant deafness with onychodystrophy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965384016	Autosomal dominant hearing loss, onychodystrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4965385015	DDOD (dominant deafness onychodystrophy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4965391018	A rare multiple congenital anomalies syndrome with characteristics of congenital hearing impairment, small or absent nails on the hands and feet and small or absent terminal phalanges. Caused, in some cases by heterozygous mutations in the ATP6V1B2 gene (8p21.3) encoding a vacuolar ATPase (V-ATPase) involved in protein translocation. Inheritance is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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