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89392001: Prader-Willi 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
148214012 Prader-Willi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
832276019 Prader-Willi syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3793256012 Prader Labhart Willi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1808611000005119 Prader-Willis syndrom da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Prader-Willi syndrome Is a Anomaly of chromosome pair 15 false Inferred relationship Some
Prader-Willi syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings false Inferred relationship Some
Prader-Willi syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
Prader-Willi syndrome Finding site Sex chromosome false Inferred relationship Some
Prader-Willi syndrome Occurrence Congenital false Inferred relationship Some
Prader-Willi syndrome Finding site Brain structure false Inferred relationship Some 2
Prader-Willi syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Prader-Willi syndrome Associated morphology Kongenit malformation false Inferred relationship Some
Prader-Willi syndrome Associated morphology kongenit anomali false Inferred relationship Some 1
Prader-Willi syndrome Associated morphology kongenit anomali false Inferred relationship Some 1
Prader-Willi syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
Prader-Willi syndrome Occurrence Congenital true Inferred relationship Some 1
Prader-Willi syndrome Finding site Chromosome pair 15 false Inferred relationship Some 1
Prader-Willi syndrome Occurrence Congenital true Inferred relationship Some 2
Prader-Willi syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Prader-Willi syndrome Associated morphology dysgenese false Inferred relationship Some 2
Prader-Willi syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Prader-Willi syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Prader-Willi syndrome Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Some
Prader-Willi syndrome Is a Genetic disease true Inferred relationship Some
Prader-Willi syndrome Is a Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. true Inferred relationship Some
Prader-Willi syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Prader-Willi syndrome Occurrence Congenital true Inferred relationship Some 3
Prader-Willi syndrome Finding site Structure of distal part of pituitary true Inferred relationship Some 3
Prader-Willi syndrome Finding site Gonadal endocrine structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of Prader-Willi syndrome Associated finding True Prader-Willi syndrome Inferred relationship Some 1

Reference Sets

GB English

US English

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