702362004: Craniofacial deafness hand syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand\Congenital anomaly of hand\Craniofacial deafness hand syndrome

\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\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome

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

\Congenital hearing disorder\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of hand\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand\Craniofacial deafness hand syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniofacial deafness hand syndrome

Status: current, Primitive. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2995560012 Craniofacial deafness hand syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

2995823017 Craniofacial deafness hand syndrome en Synonym Active Case insensitive SNOMED CT core

3881249013 Sommer Young Wee Frye syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniofacial deafness hand syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Is a	Congenital anomaly of hand	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome	Finding site	Hand structure	true	Inferred relationship	Some	1
Craniofacial deafness hand syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniofacial deafness hand syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniofacial deafness hand syndrome	Interprets	Hearing	true	Inferred relationship	Some	4
Craniofacial deafness hand syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniofacial deafness hand syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some

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
2995560012	Craniofacial deafness hand syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
2995823017	Craniofacial deafness hand syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3881249013	Sommer Young Wee Frye syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core