773749003: Genitopalatocardiac syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome

\Head finding (finding)\Finding of head region\Orofacial cleft (disorder)\Cleft palate\Genitopalatocardiac syndrome
\Head finding (finding)\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Genitopalatocardiac syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Genitopalatocardiac syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of head (disorder)\Disorder of palate (disorder)\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Genitopalatocardiac syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft palate\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\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\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome

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

3726263013 Genitopalatocardiac syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726264019 Genitopalatocardiac syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3726265018 Gardner Silengo Wachtel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3726184011 A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405416017 A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405417014 A rare, multiple congenital anomalies/dysmorphic syndrome characterised by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genitopalatocardiac syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	Cleft palate	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Genitopalatocardiac syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Genitopalatocardiac syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Genitopalatocardiac syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Finding site	Heart structure	true	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Finding site	Gonadal structure	true	Inferred relationship	Some	1
Genitopalatocardiac syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Genitopalatocardiac syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	Pure gonadal dysgenesis 46,XY	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Genitopalatocardiac syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Genitopalatocardiac syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
Genitopalatocardiac syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
Genitopalatocardiac syndrome	Associated morphology	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
Genitopalatocardiac syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726263013	Genitopalatocardiac syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726264019	Genitopalatocardiac syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3726265018	Gardner Silengo Wachtel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3726184011	A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405416017	A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405417014	A rare, multiple congenital anomalies/dysmorphic syndrome characterised by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core