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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
3637753015 Houlston Ironton Temple syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5403927011 A rare, genetic multiple congenital anomalies syndrome characterized by 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 place anus, rectovaginal fistula) defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403928018 A rare, genetic multiple congenital anomalies syndrome characterised by 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 place anus, rectovaginal fistula) defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3637753015 Houlston Ironton Temple syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
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
5403927011 A rare, genetic multiple congenital anomalies syndrome characterized by 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 place anus, rectovaginal fistula) defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403928018 A rare, genetic multiple congenital anomalies syndrome characterised by 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 place anus, rectovaginal fistula) defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
542161000274112 Houlston-Ironton-Temple-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
572641000274119 Atrioventrikulärer Defekt-Blepharophimose-Radial- und Analdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013131000241116 syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1013131000241116 syndrome de cardiopathie, blépharophimosis, anomalie du radius, anomalie anale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
542161000274112 Houlston-Ironton-Temple-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
572641000274119 Atrioventrikulärer Defekt-Blepharophimose-Radial- und Analdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3411421001000117 Atrioventrikulärer Defekt-Blepharophimose- Radial-und Analdefekt-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital septal defect of heart false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of upper limb true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital blepharophimosis true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of atrioventricular septum false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Narrowed structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of palpebral fissure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Structure of atrioventricular septum (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Congenital septal defect true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Anal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Finding site Upper limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of cardiac chamber (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac connection false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital anomaly of eyelid false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of cardiac ventricle false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Narrowing of palpebral fissure (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital abnormality of atrium (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Is a Congenital atrioventricular septal defect (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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