716245003: Deafness craniofacial syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Deafness craniofacial syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness craniofacial syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness craniofacial syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Deafness craniofacial syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness craniofacial syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Deafness craniofacial syndrome

\Hearing loss\Hearing loss associated with syndrome\Deafness craniofacial syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Deafness craniofacial syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Deafness craniofacial syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Deafness craniofacial syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Deafness craniofacial syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Deafness craniofacial syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Deafness craniofacial syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Deafness craniofacial syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disease\Congenital disease\Congenital hearing disorder\Deafness craniofacial syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Deafness craniofacial syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Deafness craniofacial syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3305220018 Deafness craniofacial syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3305221019 Deafness craniofacial syndrome en Synonym Active Case insensitive SNOMED CT core

3305222014 This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deafness craniofacial syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Deafness craniofacial syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Deafness craniofacial syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Deafness craniofacial syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Deafness craniofacial syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Deafness craniofacial syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Deafness craniofacial syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Deafness craniofacial syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Deafness craniofacial syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Deafness craniofacial syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	2
Deafness craniofacial syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Deafness craniofacial syndrome	Is a	Hearing loss	false	Inferred relationship	Some
Deafness craniofacial syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Deafness craniofacial syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Deafness craniofacial syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Deafness craniofacial syndrome	Finding site	Structure of auditory system	false	Inferred relationship	Some	3
Deafness craniofacial syndrome	Interprets	Hearing	false	Inferred relationship	Some	2
Deafness craniofacial syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Deafness craniofacial syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Deafness craniofacial syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Deafness craniofacial syndrome	Finding site	Face structure	false	Inferred relationship	Some	4

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
3305220018	Deafness craniofacial syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305221019	Deafness craniofacial syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305222014	This syndrome has characteristics of the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core