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63247009: Williams syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
105139014 Williams syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1232445010 William syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3791530012 Williams Beuren syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3791531011 Deletion 7q11.23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3791532016 Monosomy 7q11.23 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
451151000241111 syndrome de Williams (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
802509010 Williams syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
911741000172113 syndrome de Williams fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934761000172117 délétion 7q11.23 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Williams syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Williams syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 5
Williams syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Williams syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 5
Williams syndrome est un(e) (attribut) affection congénitale du tissu conjonctif true Inferred relationship Some
Williams syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Williams syndrome localisation d'une constatation (attribut) Long arm of chromosome (cell structure) true Inferred relationship Some 1
Williams syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Williams syndrome localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 3
Williams syndrome morphologie associée (attribut) Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
Williams syndrome est un(e) (attribut) Genetic disease true Inferred relationship Some
Williams syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Williams syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Williams syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Williams syndrome est un(e) (attribut) 7q partial monosomy true Inferred relationship Some
Williams syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Williams syndrome est un(e) (attribut) maladie cardiaque congénitale true Inferred relationship Some
Williams syndrome localisation d'une constatation (attribut) cœur true Inferred relationship Some 4
Williams syndrome survenue (attribut) congénital true Inferred relationship Some 3
Williams syndrome survenue (attribut) congénital true Inferred relationship Some 4
Williams syndrome survenue (attribut) congénital true Inferred relationship Some 5
Williams syndrome est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Williams syndrome morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Williams syndrome est un(e) (attribut) Familial idiopathic hypercalciuria false Inferred relationship Some
Williams syndrome est un(e) (attribut) anomalie du chromosome 7 (trouble) false Inferred relationship Some
Williams syndrome est un(e) (attribut) Multiple malformation syndrome, moderate short stature, facial false Inferred relationship Some
Williams syndrome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Williams syndrome localisation d'une constatation (attribut) Urinary system structure false Inferred relationship Some 3
Williams syndrome survenue (attribut) congénital true Inferred relationship Some 1
Williams syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Williams syndrome survenue (attribut) congénital true Inferred relationship Some 2
Williams syndrome morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 1
Williams syndrome morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 2
Williams syndrome localisation d'une constatation (attribut) Chromosome pair 7 true Inferred relationship Some 2
Williams syndrome localisation d'une constatation (attribut) Chromosome pair 7 false Inferred relationship Some 1
Williams syndrome morphologie associée (attribut) Deletion of long arm false Inferred relationship Some 4
Williams syndrome survenue (attribut) congénital false Inferred relationship Some
Williams syndrome localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
Williams syndrome localisation d'une constatation (attribut) Urinary tract structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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