717909004: Bilateral microtia with deafness and cleft palate syndrome (disorder)

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

\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

\Hearing loss\Congenital anomaly of ear with impairment of hearing\A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5401627015 A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401628013 A rare genetic, orofacial clefting syndrome characterised by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324380017 Bilateral microtia with deafness and cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3324381018 Bilateral microtia with deafness and cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5776161000241110 syndrome de microtie bilatérale avec surdité et fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3396521001000115 Bilaterale Mikrotie-Schwerhörigkeit-Gaumenspalte-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Microtia	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Cleft palate	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Congenital anomaly of ear with impairment of hearing	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Congenital anomaly of right ear (disorder)	false	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Interprets	Hearing	true	Inferred relationship	Some	4
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Interprets	entité observable fonctionnelle	false	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	false	Inferred relationship	Some	6
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	7
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	false	Inferred relationship	Some	7
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Right external ear structure	false	Inferred relationship	Some	7
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	6
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Palatal structure	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Left external ear structure	false	Inferred relationship	Some	6
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Palatal structure	false	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Congenital anomaly of left ear (disorder)	false	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	true	Inferred relationship	Some	3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Congenital smallness	false	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Right external ear structure	true	Inferred relationship	Some	3
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Palatal structure	true	Inferred relationship	Some	2
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Left external ear structure	true	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Congenital malformation of bilateral external ears (disorder)	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Finding site	Bone structure of head	false	Inferred relationship	Some	5
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1
A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	3

Inbound Relationships

Characteristic

Refinability

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5401627015	A rare genetic, orofacial clefting syndrome characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401628013	A rare genetic, orofacial clefting syndrome characterised by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324380017	Bilateral microtia with deafness and cleft palate syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324381018	Bilateral microtia with deafness and cleft palate syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5776161000241110	syndrome de microtie bilatérale avec surdité et fente palatine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396521001000115	Bilaterale Mikrotie-Schwerhörigkeit-Gaumenspalte-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module