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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia (disorder)\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Functional finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia (disorder)\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\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\Disorder of body system\Disorder of auditory system\Hearing disorder (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\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia (disorder)\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia (disorder)\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
3302858015	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3445041001000114	Phokomelie - Ektrodaktylie - Schwerhörigkeit - Sinusarrhythmie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6475521000241114	syndrome de Stoll-Lévy-Francfort	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6475531000241111	syndrome de phocomélie, ectrodactylie, surdité et arythmie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6475521000241114	syndrome de Stoll-Lévy-Francfort	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6475531000241111	syndrome de phocomélie, ectrodactylie, surdité et arythmie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445041001000114	Phokomelie - Ektrodaktylie - Schwerhörigkeit - Sinusarrhythmie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start