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

Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3755486013 GLOW syndrome en Synonym Active Case sensitive SNOMED CT core
3755487016 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumor) syndrome en Synonym Active Case sensitive SNOMED CT core
3755488014 Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome en Synonym Active Initial character case insensitive SNOMED CT core
3755489018 GLOW (global developmental delay, lung cysts, overgrowth, Wilms tumour) syndrome en Synonym Active Case sensitive SNOMED CT core
3755490010 Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome en Synonym Active Initial character case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Nephroblastoma true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Global developmental delay true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Multiple malformation syndrome with early overgrowth true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Congenital anomaly of face true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Occurrence Congenital true Inferred relationship Some 3
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Congenital anomaly of lung true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Lesion of lung true Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Occurrence Congenital true Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Associated morphology Cystic dilatation true Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Finding site Lung structure true Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Finding site Structure of parenchyma of kidney true Inferred relationship Some 2
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Finding site Face structure true Inferred relationship Some 3
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Associated morphology Nephroblastoma true Inferred relationship Some 2
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a Developmental hereditary disorder false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Respiratory finding reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

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