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724066002: Polysyndactyly and cardiac malformation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3429754015 Polysyndactyly and cardiac malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3429755019 Polysyndactyly and cardiac malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3429756018 Bonneau syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429757010 Syndrome with characteristics of polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). 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
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 3
Polysyndactyly and cardiac malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Polysyndactyly and cardiac malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) localisation d'une constatation (attribut) cœur true Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) polysyndactylie (trouble) true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) localisation d'une constatation (attribut) cœur false Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 3
Polysyndactyly and cardiac malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Polysyndactyly and cardiac malformation syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 3
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 2
Polysyndactyly and cardiac malformation syndrome (disorder) morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Polysyndactyly and cardiac malformation syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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