763839005: Neonatal Marfan syndrome (disorder)

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

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

\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome

\Finding of neonate\Neonatal disorder\Neonatal cardiovascular disorder\Neonatal Marfan syndrome

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\...

\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome

\Neonatal cardiovascular disorder\Neonatal Marfan syndrome

\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Neonatal Marfan syndrome
\Disease\Genetic disease\Hereditary disease\Connective tissue hereditary disorder (disorder)\Marfan's syndrome\Neonatal Marfan syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Marfan's syndrome\Neonatal Marfan syndrome
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal cardiovascular disorder\Neonatal Marfan syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Neonatal cardiovascular disorder\Neonatal Marfan syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Neonatal Marfan syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Disorder of connective tissue (disorder)\Connective tissue hereditary disorder (disorder)\Marfan's syndrome\Neonatal Marfan syndrome
\Disease\Disorder of connective tissue (disorder)\Congenital connective tissue disorder\Neonatal Marfan syndrome
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
\Disease\Congenital disease (disorder)\Congenital connective tissue disorder\Neonatal Marfan syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Neonatal Marfan syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Neonatal Marfan syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Neonatal Marfan syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644679014 Neonatal Marfan syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3644680012 Neonatal Marfan syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3644681011 A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

961011000172112 MFS néonatal fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1003471000172115 syndrome de Marfan néonatal fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

881821000172118 neonataal Marfan-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

969101000172114 neonataal syndroom van Marfan nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

996891000172116 neonatale MFS (Marfan-syndroom) nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

1948031000172116 neonataal MFS (Marfan-syndroom) nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal Marfan syndrome	Is a	Congenital anomaly of cardiovascular system	true	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	Marfan's syndrome	true	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	Congenital connective tissue disorder	true	Inferred relationship	Some
Neonatal Marfan syndrome	Is a	Neonatal cardiovascular disorder	true	Inferred relationship	Some
Neonatal Marfan syndrome	Occurrence	Neonatal	true	Inferred relationship	Some	4
Neonatal Marfan syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neonatal Marfan syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neonatal Marfan syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Neonatal Marfan syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Neonatal Marfan syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Neonatal Marfan syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Neonatal Marfan syndrome	Finding site	Connective tissue structure	false	Inferred relationship	Some	1
Neonatal Marfan syndrome	Finding site	Structure of cardiovascular system (body structure)	false	Inferred relationship	Some	2
Neonatal Marfan syndrome	Finding site	Connective tissue structure	true	Inferred relationship	Some	3
Neonatal Marfan syndrome	Finding site	Structure of cardiovascular system (body structure)	true	Inferred relationship	Some	1
Neonatal Marfan syndrome	Finding site	Face structure	false	Inferred relationship	Some	3
Neonatal Marfan syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Neonatal Marfan syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Neonatal Marfan syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Neonatal Marfan syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Neonatal Marfan syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Neonatal Marfan syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for neonatology in patient health records

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644679014	Neonatal Marfan syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3644680012	Neonatal Marfan syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3644681011	A rare severe and life-threatening genetic disease occurring during the neonatal period. The disease has characteristics of classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
961011000172112	MFS néonatal	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
1003471000172115	syndrome de Marfan néonatal	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
881821000172118	neonataal Marfan-syndroom	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
969101000172114	neonataal syndroom van Marfan	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
996891000172116	neonatale MFS (Marfan-syndroom)	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
1948031000172116	neonataal MFS (Marfan-syndroom)	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)