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

SNOMED CT Concept\Clinical finding\...

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

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

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

\Functional finding\Decline in functional status\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Functional finding\Hearing 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
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Functional finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome

\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
\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
\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
\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
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\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
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Disorder of head\Disorder of ear\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\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
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Partial congenital absence of limb\Phocomelia\Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3302859011 Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome en Synonym Active Case insensitive SNOMED CT core

3302860018 Stoll Lévy Francfort syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302858015	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302859011	Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302860018	Stoll Lévy Francfort syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core