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763066009: Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3637753015 Houlston Ironton Temple syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3637756011 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3637757019 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3638128012 A rare genetic multiple congenital anomaly syndrome with characteristics of atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly placed anus, rectovaginal fistula) defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
2143301000172116 "syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale" fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2143311000172118 syndrome de Houlston-Ironton-Temple fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian French language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2143271000172118 "syndroom van atrioventriculair septumdefect, blefarofimose, radiaal en anaal defect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)
2143281000172115 "syndroom van atrioventriculairseptumdefect, blefarofimose, radiaal en anaal defect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Preferred (foundation metadata concept)
2143291000172117 "syndroom van atrioventriculair defect, blefarofimose, radiaal en anaal defect" nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept) Belgian Dutch language reference set (foundation metadata concept): Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of anus true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital septal defect of heart true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of upper limb true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital blepharophimosis true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of atrioventricular septum true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Some 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Some 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of palpebral fissure true Inferred relationship Some 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of atrioventricular septum true Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Congenital septal defect (morphologic abnormality) true Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Anal structure true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Upper limb structure true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of cardiac chamber (disorder) false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac connection true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of eyelid false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac ventricle true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Narrowing of palpebral fissure (finding) false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of atrium (disorder) true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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