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770680004: Prader-Willi-like syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3702087010 Prader-Willi-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702088017 Prader-Willi-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404876012 A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404877015 A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702087010 Prader-Willi-like syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3702088017 Prader-Willi-like syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404876012 A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404877015 A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3394431001000114 Prader-Willi-ähnliches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930081000172116 PWS-like - Prader-Willi-like syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941751000172117 syndrome de Prader-Willi-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
930081000172116 PWS-like - Prader-Willi-like syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
941751000172117 syndrome de Prader-Willi-like fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3394431001000114 Prader-Willi-ähnliches Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Prader-Willi-like syndrome Interprets Measured body weight (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Prader-Willi-like syndrome Is a Obesity true Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Prader-Willi-like syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Is a Multiple malformation syndrome with unusual brain and/or neuromuscular findings true Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Is a Congenital hypogonadotropic hypogonadism (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Prader-Willi-like syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi-like syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi-like syndrome Finding site Structure of distal part of pituitary true Inferred relationship Existential restriction modifier (core metadata concept) 2
Prader-Willi-like syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi-like syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Prader-Willi-like syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Prader-Willi-like syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Prader-Willi-like syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Prader-Willi-like syndrome Is a Genetic disease true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
6q16 microdeletion syndrome Is a True Prader-Willi-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
SIM1-related Prader-Willi-like syndrome Is a True Prader-Willi-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
MAGE family member L2-related Prader-Willi-like syndrome (disorder) Is a True Prader-Willi-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Is a True Prader-Willi-like syndrome Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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