699316006: Myhre syndrome (disorder)

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

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Myhre syndrome

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

\Finding of general physiological development\Disorder of stature\Short stature disorder\Myhre syndrome

\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
\Finding of head and neck region\Head finding (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 (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Myhre syndrome
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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 anomaly	false	Inferred relationship	Some	1
Myhre syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	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 (disorder)	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 (attribute)	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 (observable entity)	true	Inferred relationship	Some	5
Myhre syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Myhre syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Myhre syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
2983758013	Facial dysmorphism, intellectual deficit, short stature and hearing loss	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983767013	Laryngotracheal stenosis, arthropathy, prognathism and short stature	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2983775019	Myhre syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2983781010	Myhre syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
995571000172113	syndrome de Myhre	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1020261000172112	syndrome de dysmorphie faciale, déficience intellectuelle, petite taille, surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
885861000172111	syndroom van Myhre	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
919761000172113	Myhre-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
994691000172112	faciale dysmorfie, intellectuele achterstand, kleine gestalte, gehoorverlies	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)