720748007: Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\...

\Disorder of cardiac ventricle\Congenital abnormality of cardiac ventricle\Congenital ventricular septal defect\Cooper Jabs syndrome
\Disorder of cardiac ventricle\Ventricular septal abnormality\Ventricular septal defect\Congenital ventricular septal defect\Cooper Jabs syndrome

\Structural disorder of heart\Ventricular septal abnormality\Ventricular septal defect\Congenital ventricular septal defect\Cooper Jabs syndrome
\Structural disorder of heart\Cardiac septal defects\Congenital septal defect of heart\Congenital ventricular septal defect\Cooper Jabs syndrome
\Structural disorder of heart\Cardiac septal defects\Ventricular septal defect\Congenital ventricular septal defect\Cooper Jabs syndrome
\Structural disorder of heart\Congenital heart disease\Congenital anomaly of cardiac chamber\Congenital abnormality of cardiac ventricle\Congenital ventricular septal defect\Cooper Jabs syndrome
\Structural disorder of heart\Congenital heart disease\Congenital septal defect of heart\Congenital ventricular septal defect\Cooper Jabs syndrome

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

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cooper Jabs syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\External ear finding\Ear canal finding\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\External ear finding\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Ear lesion\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital anomaly of ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Lesion of external ear\Lesion of ear canal\Congenital atresia of external auditory canal\Cooper Jabs syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Disorder of external ear\Congenital abnormality of external ear\Congenital atresia of external auditory canal\Cooper Jabs syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Cooper Jabs syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Cooper Jabs syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Cooper Jabs syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3321979011 Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3321980014 Aural atresia with multiple congenital anomalies and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3321981013 Cooper Jabs syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cooper Jabs syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cooper Jabs syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cooper Jabs syndrome	Associated morphology	Congenital atresia	true	Inferred relationship	Some	1
Cooper Jabs syndrome	Finding site	External auditory canal structure	true	Inferred relationship	Some	1
Cooper Jabs syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	2
Cooper Jabs syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cooper Jabs syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Cooper Jabs syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Cooper Jabs syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Cooper Jabs syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Cooper Jabs syndrome	Is a	Ventricular septal defect	false	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Congenital atresia of external auditory canal	true	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Cooper Jabs syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	2
Cooper Jabs syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Cooper Jabs syndrome	Finding site	Interventricular septum structure	true	Inferred relationship	Some	2
Cooper Jabs syndrome	Associated morphology	Congenital atresia	false	Inferred relationship	Some	3
Cooper Jabs syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Cooper Jabs syndrome	Finding site	External auditory canal structure	false	Inferred relationship	Some	3
Cooper Jabs syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Cooper Jabs syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Cooper Jabs syndrome	Finding site	Interventricular septum structure	false	Inferred relationship	Some	1
Cooper Jabs syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Cooper Jabs syndrome	Is a	Congenital ventricular septal defect	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3321979011	Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3321980014	Aural atresia with multiple congenital anomalies and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3321981013	Cooper Jabs syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core