1208342001: Eye defects, arachnodactyly, cardiopathy syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\...

\Congenital dysplasia of limb (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome

\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy 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\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Eye defects, arachnodactyly, cardiopathy 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\Eye defects, arachnodactyly, cardiopathy 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\Eye defects, arachnodactyly, cardiopathy syndrome

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

\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\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\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of head region\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome

\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome

\Eye / vision finding\Globe finding\Anterior segment finding (finding)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy 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\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Eye defects, arachnodactyly, cardiopathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Eye defects, arachnodactyly, cardiopathy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4963741017 Eye defects, arachnodactyly, cardiopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963742012 Al Gazali Al Talabani syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963743019 Eye defects, arachnodactyly, cardiopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4963744013 Al Gazali Lytle syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4963745014 A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
13671511000172118 syndroom van oogdefect, acromacrie en hartziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13671521000172111 syndroom van oogdefect, spinnenkopvingers en hartaandoening nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13671531000172114 syndroom van oogdefect, dolichostenomelie en hartziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13671541000172119 syndroom van Al Gazali-Lytle nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
13671551000172117 syndroom van Al Gazali-Al Talabani nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
13671561000172115 syndroom van oogdefect, acanthodactylie en hartziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
13671571000172112 syndroom van oogdefect, arachnodactylie en hartziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Dysostosis	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Congenital anomaly of anterior segment of eye (disorder)	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Heart disease	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Congenital cardiovascular disorder (disorder)	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Eye defects, arachnodactyly, cardiopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Eye defects, arachnodactyly, cardiopathy syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Eye defects, arachnodactyly, cardiopathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Eye defects, arachnodactyly, cardiopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Eye defects, arachnodactyly, cardiopathy syndrome	Finding site	Anterior eyeball segment structure	true	Inferred relationship	Some	2
Eye defects, arachnodactyly, cardiopathy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Eye defects, arachnodactyly, cardiopathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Eye defects, arachnodactyly, cardiopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Eye defects, arachnodactyly, cardiopathy syndrome	Finding site	Face structure	true	Inferred relationship	Some	3
Eye defects, arachnodactyly, cardiopathy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Eye defects, arachnodactyly, cardiopathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Eye defects, arachnodactyly, cardiopathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	5
Eye defects, arachnodactyly, cardiopathy syndrome	Finding site	Heart structure	true	Inferred relationship	Some	5
Eye defects, arachnodactyly, cardiopathy syndrome	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1
Eye defects, arachnodactyly, cardiopathy syndrome	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4963741017	Eye defects, arachnodactyly, cardiopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963742012	Al Gazali Al Talabani syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963743019	Eye defects, arachnodactyly, cardiopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963744013	Al Gazali Lytle syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963745014	A rare genetic bone development disorder with characteristics of pre and postnatal growth retardation, skeletal anomalies such as arachnodactyly and bilateral talipes equinovarus, joint contractures with camptodactyly, dysmorphic facial features (including midface hypoplasia or micrognathia) and abnormalities of the anterior segment of the eye. Skeletal imaging may show diffuse osteopenia and multiple fractures. The syndrome is lethal within the first year of life. Caused by mutation in the B3GALT6 gene on chromosome 1p36.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
13671511000172118	syndroom van oogdefect, acromacrie en hartziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671521000172111	syndroom van oogdefect, spinnenkopvingers en hartaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671531000172114	syndroom van oogdefect, dolichostenomelie en hartziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671541000172119	syndroom van Al Gazali-Lytle	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671551000172117	syndroom van Al Gazali-Al Talabani	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671561000172115	syndroom van oogdefect, acanthodactylie en hartziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13671571000172112	syndroom van oogdefect, arachnodactylie en hartziekte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)