719400000: Lethal faciocardiomelic dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Deformity\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia

\Viscus structure finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia

\Finding of limb structure\Deformity of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\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\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia

\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\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Cardiovascular finding\Cardiovascular disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Cardiovascular finding\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Cardiovascular finding\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Cardiovascular disease\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of body system\Disorder of mediastinum\Heart disease\Structural disorder of heart\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\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\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital cardiovascular disorder\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Longitudinal deficiency of limb\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Lethal faciocardiomelic dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Lethal faciocardiomelic dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

3316217010 Lethal faciocardiomelic dysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3316218017 Lethal faciocardiomelic dysplasia en Synonym Active Case insensitive SNOMED CT core

3316219013 Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	2
Lethal faciocardiomelic dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Lethal faciocardiomelic dysplasia	Finding site	Entire limb	true	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia	Associated morphology	Abnormally short growth	true	Inferred relationship	Some	1
Lethal faciocardiomelic dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Lethal faciocardiomelic dysplasia	Finding site	Face structure	true	Inferred relationship	Some	2
Lethal faciocardiomelic dysplasia	Is a	Congenital deformity	false	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Congenital heart disease	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Lethal faciocardiomelic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Finding site	Face structure	false	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia	Finding site	Entire limb	false	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Lethal faciocardiomelic dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	5
Lethal faciocardiomelic dysplasia	Finding site	Structure of left side of heart	false	Inferred relationship	Some	5
Lethal faciocardiomelic dysplasia	Finding site	Structure of left side of heart	true	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia	Is a	Congenital anomaly of cardiac chamber	false	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316217010	Lethal faciocardiomelic dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316218017	Lethal faciocardiomelic dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3316219013	Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. It was described only once, in 1975, in 3 affected males in a sibship of 13, from second-cousin parents. Patients were all of low birth weight, had microretrognathia, microstomia, and microglossia, hypoplasia of the radius and ulna with radial deviation of the hands, simian creases and hypoplasia of fingers I and V, hypoplasia of the fibula and tibia with talipes and wide space between toes I and II, and severe malformation of the left heart which may have been responsible for death of all 3 in the first week or so of life.	en	Definition	Active	Case sensitive	SNOMED CT core