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722132007: Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330843016 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330844010 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330845011 PAGOD syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330846012 PAGOD (pulmonary hypoplasia, hypoplasia pulmonary artery, agonadism, omphalocele, dextrocardia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402843014 PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402844015 PAGOD syndrome is a severe developmental syndrome characterised by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330843016 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330843016 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330844010 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3330844010 Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330845011 PAGOD syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330846012 PAGOD (pulmonary hypoplasia, hypoplasia pulmonary artery, agonadism, omphalocele, dextrocardia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330852013 PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all patient’s present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4361394013 PAGOD syndrome is a severe developmental syndrome with characteristics of multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Since the first publication in 1991, only 11 patients have been described. Neonates with PAGOD syndrome present with several visceral anomalies: hypoplasia of right or left lung, diaphragmatic hernia, omphalocele, various cardiac anomalies including, amongst others atrial septal defect, left ventricular hypoplasia or ventricular septal defect and great vessels anomalies such as aortic hypoplasia and pulmonary artery hypoplasia or atresia. Cardiac and mediastinal structures may be in dextroposition. Ambiguous external genitalia can be observed in some cases and all present gonadal agenesis or hypoplasia and developmental anomalies of Wolffian and Mullerian duct structures. Vitamin A deficiency has been suggested to play a role in the development of the syndrome. Almost all cases are sporadic. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402843014 PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402844015 PAGOD syndrome is a severe developmental syndrome characterised by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3416361001000112 PAGOD-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3416361001000112 PAGOD-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
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Is a Gonadal dysgenesis true Inferred relationship Existential restriction modifier (core metadata concept)
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Finding site Gonadal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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