773749003: Genitopalatocardiac syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Orofacial cleft\Cleft palate\Genitopalatocardiac syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome

\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Genitopalatocardiac syndrome
\Disorder of head\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\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Cardiovascular finding\Cardiovascular disease\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\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\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\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 of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Genitopalatocardiac syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Genitopalatocardiac syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3726263013 Genitopalatocardiac syndrome en Synonym Active Case insensitive SNOMED CT core

3726264019 Genitopalatocardiac syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3726265018 Gardner Silengo Wachtel syndrome en Synonym Active Case sensitive 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 Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genitopalatocardiac syndrome	Associated morphology	Developmental failure of fusion	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	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	Pathological developmental process	true	Inferred relationship	Some	1
Genitopalatocardiac syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Genitopalatocardiac syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	3
Genitopalatocardiac syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Genitopalatocardiac syndrome	Associated morphology	Morphologically abnormal structure	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	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	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	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	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

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3726263013	Genitopalatocardiac syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3726264019	Genitopalatocardiac syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3726265018	Gardner Silengo Wachtel syndrome	en	Synonym	Active	Case sensitive	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	Active	Case sensitive	SNOMED CT core