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


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3637753015 Houlston Ironton Temple syndrome en Synonym Active Case sensitive SNOMED CT core
3637756011 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome en Synonym Active Case insensitive SNOMED CT core
3637757019 Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


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 eyelid false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac ventricle false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Narrowing of palpebral fissure false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of atrium false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital atrioventricular septal defect true Inferred relationship Some
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 false 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 true Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of atrioventricular septum false 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 Pathological developmental process true Inferred relationship Some 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Narrowed structure 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 abnormality 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 Pathological developmental process true Inferred relationship Some 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process 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 abnormality false Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Congenital septal defect 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 Structure of upper limb true Inferred relationship Some 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of cardiac chamber false Inferred relationship Some
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac connection 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

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