1303865002: Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\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\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding (finding)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\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 (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Finding of general observation of appearance\Physique finding\Marfanoid physique (finding)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Cardiovascular finding\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...

\Disorder of skeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Congenital anomaly of musculoskeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

\Disease\Genetic disease\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect 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 (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease (disorder)\Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5308219013 Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308220019 Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308221015 A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5308219013 Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308220019 Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5308221015 A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male. 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
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Congenital heart disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Marfanoid physique (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Genetic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Is a	Disorder of skeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Interprets	Physique type (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Finding site	Heart structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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
5308219013	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308220019	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308221015	A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5308219013	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308220019	Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5308221015	A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability with characteristics of congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Additional clinical features may include gastrointestinal problems, lipodystrophy‐like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core