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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)

\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\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

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

4726431000172114 syndroom van pulmonale hypoplasie, agonadisme, dextrocardie en middenrifbreuk nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4726441000172119 syndroom van hypoplasie van long, agonadisme, dextrocardie en hernia diaphragmatica nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4726451000172117 PAGOD-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4726461000172115 'pulmonary hypoplasia, agonadism, omphalocele, dextrocardia, diaphragmatic hernia'-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Is a	Gonadal dysgenesis	true	Inferred relationship	Some
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
4726431000172114	syndroom van pulmonale hypoplasie, agonadisme, dextrocardie en middenrifbreuk	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4726441000172119	syndroom van hypoplasie van long, agonadisme, dextrocardie en hernia diaphragmatica	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4726451000172117	PAGOD-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4726461000172115	'pulmonary hypoplasia, agonadism, omphalocele, dextrocardia, diaphragmatic hernia'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)