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

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
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
5402456014 A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402457017 A rare multiple congenital anomalies/dysmorphic syndrome characterised by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

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 Mental retardation 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 Congenital atresia 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 Congenital atresia 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 Type Active Source Characteristic Refinability Group

Reference Sets

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

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