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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear 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)
\Finding of head and neck region\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Finding of head and neck region\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)
\Finding of head and neck region\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)
\Finding of head and neck region\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 head and neck region\Ear, nose and throat finding\Ear 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)
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat 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)
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\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)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing 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 (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Ear and auditory finding (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 (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 (finding)\Ear 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 (finding)\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\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)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing 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 (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Decreased hearing (finding)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hearing (finding)\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Functional finding\Hearing finding (finding)\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)
\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Functional finding\Hearing finding (finding)\Hearing 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 (finding)\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Functional finding\Hearing finding (finding)\Decreased hearing (finding)\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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\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\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\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\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\Ear, nose and throat 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\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\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\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)
\Disease\Developmental 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\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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	Phocomelia	true	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Finding site	Ear structure	true	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Finding site	Extremity part	false	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Finding site	Extremity part	true	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Some	3
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Interprets	Hearing	false	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Is a	Congenital conductive hearing loss	true	Inferred relationship	Some
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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