720748007: syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking (aandoening)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Ventricular septal defect	false	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Congenital atresia of external auditory canal	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Finding site	Interventricular septum structure	true	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	atresie (afwijkende morfologie)	false	Inferred relationship	Some	3
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Finding site	External auditory canal structure	false	Inferred relationship	Some	3
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Finding site	Interventricular septum structure	false	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Congenital ventricular septal defect	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	atresie (afwijkende morfologie)	false	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Finding site	External auditory canal structure	true	Inferred relationship	Some	1
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	3
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	4
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	Abnormal communication	true	Inferred relationship	Some	2
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	Associated morphology	Atresia (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3321979011	Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321980014	Aural atresia with multiple congenital anomalies and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321981013	Cooper Jabs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6737231000146110	syndroom van Cooper-Jabs	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6907231000146112	syndroom van gehoorgangatresie, congenitale malformaties en mentale retardatie	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7494961000146119	syndroom van gehoorgangatresie, congenitale malformaties en verstandelijke beperking (aandoening)	nl	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7719021000146117	syndroom van gehoorgangatresie, congenitale malformaties en verstandelijke beperking	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7796241000146111	syndroom van gehoorgangatresie, congenitale malformaties en verstandelijke handicap	nl	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14198351000146117	syndroom van gehoorgangatresie, congenitale misvormingen en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14198361000146119	syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14198371000146113	syndroom van gehoorgangatresie, aangeboren afwijkingen en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14198381000146110	syndroom van gehoorgangatresie, congenitale afwijkingen en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3321982018	A multiple malformation syndrome with characteristics of atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot and intellectual deficit. It has been described only once, in two sisters.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core