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770680004: Prader-Willi-like syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702087010 Prader-Willi-like syndrome en Synonym Active Case sensitive SNOMED CT core
3702088017 Prader-Willi-like syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3702089013 A rare genetic, endocrine disease with manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) occurring in the absence of 15q11-q13 genomic abnormalities. en Definition Active Case sensitive SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Prader-Willi-like syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Prader-Willi-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Prader-Willi-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Prader-Willi-like syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Prader-Willi-like syndrome Has interpretation Above reference range true Inferred relationship Some 4
Prader-Willi-like syndrome Is a Genetic disease true Inferred relationship Some
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Some 2
Prader-Willi-like syndrome Interprets Body weight measure true Inferred relationship Some 4
Prader-Willi-like syndrome Is a Obesity true Inferred relationship Some
Prader-Willi-like syndrome Finding site Gonadal endocrine structure true Inferred relationship Some 3
Prader-Willi-like syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Prader-Willi-like syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Some
Prader-Willi-like syndrome Is a Congenital hypogonadotropic hypogonadism true Inferred relationship Some
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Some 3
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Some 1
Prader-Willi-like syndrome Finding site Face structure true Inferred relationship Some 1
Prader-Willi-like syndrome Finding site Structure of distal part of pituitary true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
6q16 microdeletion syndrome Is a True Prader-Willi-like syndrome Inferred relationship Some
SIM1-related Prader-Willi-like syndrome Is a True Prader-Willi-like syndrome Inferred relationship Some
MAGEL2-related Prader-Willi-like syndrome Is a True Prader-Willi-like syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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