721584005: syndrome neuroectodermique de Johnson (trouble)

• 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\Johnson neuroectodermal syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \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\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Johnson neuroectodermal syndrome (disorder)
• \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\Johnson neuroectodermal syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Johnson neuroectodermal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Johnson neuroectodermal syndrome (disorder)
• \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\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Johnson neuroectodermal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \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\Johnson neuroectodermal syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Johnson neuroectodermal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Johnson neuroectodermal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330161011	Johnson McMillin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330162016	Johnson neuroectodermal syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330163014	Johnson neuroectodermal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330165019	Alopecia, anosmia, deafness, hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
757191000241117	syndrome neuroectodermique de Johnson (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
874471000172110	syndrome neuroectodermique de Johnson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
937171000172117	syndrome d'alopécie, anosmie-surdité, hypogonadisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3330158010	Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start