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699316006: Myhre syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Myhre syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Myhre 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\Myhre syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Mixed conductive and sensorineural hearing loss\Congenital mixed conductive and sensorineural hearing loss\Myhre syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Myhre syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

2983758013 Facial dysmorphism, intellectual deficit, short stature and hearing loss en Synonym Active Case insensitive SNOMED CT core

2983767013 Laryngotracheal stenosis, arthropathy, prognathism and short stature en Synonym Active Case insensitive SNOMED CT core

2983775019 Myhre syndrome en Synonym Active Case sensitive SNOMED CT core

2983781010 Myhre syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myhre syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Myhre syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Myhre syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Myhre syndrome	Is a	Mixed conductive and sensorineural hearing loss	false	Inferred relationship	Some
Myhre syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Myhre syndrome	Is a	Congenital sensorineural hearing loss	false	Inferred relationship	Some
Myhre syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Myhre syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Myhre syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Myhre syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Myhre syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Myhre syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Myhre syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Myhre syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Myhre syndrome	Is a	Congenital mixed conductive and sensorineural hearing loss	true	Inferred relationship	Some
Myhre syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Myhre syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Myhre syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Myhre syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Myhre syndrome	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
Myhre syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Myhre syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Myhre syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Myhre syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2983758013	Facial dysmorphism, intellectual deficit, short stature and hearing loss	en	Synonym	Active	Case insensitive	SNOMED CT core
2983767013	Laryngotracheal stenosis, arthropathy, prognathism and short stature	en	Synonym	Active	Case insensitive	SNOMED CT core
2983775019	Myhre syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
2983781010	Myhre syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core