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782722002: Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3755485012 Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755486013 GLOW syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755487016 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755488014 Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755489018 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755490010 Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755491014 A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755492019 A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755485012 Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755486013 GLOW syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755487016 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755488014 Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755489018 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755490010 Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755491014 A rare genetic overgrowth syndrome characterised by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumour. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behaviour. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755492019 A rare genetic overgrowth syndrome characterized by global developmental delay, macrosomia with subsequent somatic overgrowth, bilateral cystic lung lesions, congenital nephromegaly and bilateral Wilms tumor. Craniofacial dysmorphism includes macrocephaly, frontal bossing, large anterior fontanelle, mild hypertelorism, ear pit, flat nasal bridge, anteverted nares and mild micrognathia. Additional features may include brain and skeletal anomalies, enlarged protuberant abdomen, fat pads on dorsum of feet and toes, and rugated soles with skin folds, as well as umbilical/inguinal hernia and autistic behavior. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
1058611000195115 Allgemeine Entwicklungsverzögerung-Lungenzysten-Grosswuchs-Wilms-Tumor-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590481000241117 retard de développement global, kystes pulmonaires, prolifération, tumeur de Wilms fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590481000241117 retard de développement global, kystes pulmonaires, prolifération, tumeur de Wilms fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1058611000195115 Allgemeine Entwicklungsverzögerung-Lungenzysten-Grosswuchs-Wilms-Tumor-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418321001000117 Allgemeine Entwicklungsverzögerung-Lungenzysten-Großwuchs-Wilms-Tumor-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Nephroblastoma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Congenital anomaly of lung true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Lesion of lung (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Finding site Lung structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Finding site Structure of parenchyma of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 2
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Associated morphology Nephroblastoma true Inferred relationship Existential restriction modifier (core metadata concept) 2
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a Developmental hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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