723333000: Faciocardiorenal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Faciocardiorenal syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Faciocardiorenal syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Kidney lesion\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Faciocardiorenal syndrome

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

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Faciocardiorenal syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Faciocardiorenal syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Faciocardiorenal syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Faciocardiorenal syndrome
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Faciocardiorenal syndrome
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Faciocardiorenal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Faciocardiorenal syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Faciocardiorenal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Faciocardiorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Faciocardiorenal 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\Faciocardiorenal syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Faciocardiorenal syndrome
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Kidney lesion\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Kidney lesion\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Faciocardiorenal 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\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal 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 the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Faciocardiorenal syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal 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 the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the kidney\Congenital fusion of kidneys\Horseshoe kidney\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Faciocardiorenal syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424120011 Faciocardiorenal syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3424121010 Faciocardiorenal syndrome en Synonym Active Case insensitive SNOMED CT core

3424122015 Eastman Bixler syndrome en Synonym Active Case sensitive SNOMED CT core

3424123013 A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Faciocardiorenal syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Faciocardiorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Faciocardiorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Faciocardiorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Faciocardiorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Faciocardiorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Faciocardiorenal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Faciocardiorenal syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Faciocardiorenal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Faciocardiorenal syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	1
Faciocardiorenal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Faciocardiorenal syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Faciocardiorenal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Faciocardiorenal syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Faciocardiorenal syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Faciocardiorenal syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Horseshoe kidney	true	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Faciocardiorenal syndrome	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Faciocardiorenal syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Faciocardiorenal syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Faciocardiorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Faciocardiorenal syndrome	Finding site	Structure of heart	false	Inferred relationship	Some	4
Faciocardiorenal syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Faciocardiorenal syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Faciocardiorenal syndrome	Finding site	Structure of heart	true	Inferred relationship	Some	3
Faciocardiorenal syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	5
Faciocardiorenal syndrome	Finding site	Kidney structure	false	Inferred relationship	Some	5
Faciocardiorenal syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Faciocardiorenal syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424120011	Faciocardiorenal syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3424121010	Faciocardiorenal syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3424122015	Eastman Bixler syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3424123013	A very rare syndrome with characteristics of intellectual deficit, horseshoe kidney, and congenital heart defects. Four cases have been reported in the literature in two unrelated families. Dysmorphic features include plagiocephaly, malar hypoplasia, broad nasal bridge, poorly developed philtrum and nasal alae, cleft palate and hypodontia. Congenital heart defects were endocardial fibroelastosis in one family and prolapse of the tricuspid valve in the other. The condition is probably hereditary and transmitted as an autosomal recessive trait.	en	Definition	Active	Case sensitive	SNOMED CT core