715506001: Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Phocomelia, ectrodactyly, deafness and sinus arrhythmia 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\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302858015	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302859011	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302860018	Stoll Lévy Francfort syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302861019	Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families.	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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