1187642008: Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\...

\Finding of left side of heart (finding)\Finding of left ventricle\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\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\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\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\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Finding of left side of heart (finding)\Finding of left ventricle\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

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

\Finding of head circumference\Macrocephaly (finding)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\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\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Finding of left side of heart (finding)\Finding of left ventricle\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Myocardial finding\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Cardiac finding\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Disorder of skeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Disorder of cardiac ventricle (disorder)\Disorder of left cardiac ventricle (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Myocardial disease\Cardiomyopathy\Ventricular myocardial noncompaction cardiomyopathy (disorder)\Left ventricular myocardial noncompaction cardiomyopathy (disorder)\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

4675711017 Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4675712012 Macrocephaly, intellectual disability, left ventricular non compaction syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4675713019 A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4675714013 A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13985391000172111 syndrome de macrocéphalie, déficience intellectuelle et non-compaction ventriculaire gauche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13985401000172113 syndrome de macrocéphalie, déficience intellectuelle et non-compaction du ventricule gauche fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7390711000172111 syndroom van macrocefalie, mentale retardatie en LVNC nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7390721000172118 syndroom van macrocefalie, verstandelijke beperking en non-compactiecardiomyopathie van linker ventrikel nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7390731000172115 syndroom van macrocefalie, verstandelijke handicap en NCCM van linker ventrikel 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
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Macrocephaly (finding)	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Left ventricular myocardial noncompaction cardiomyopathy (disorder)	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Is a	Disorder of skeletal system	true	Inferred relationship	Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Finding site	Structure of myocardium of left ventricle	true	Inferred relationship	Some	4
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4675711017	Macrocephaly, intellectual disability, left ventricular non compaction syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675712012	Macrocephaly, intellectual disability, left ventricular non compaction syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675713019	A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4675714013	A rare genetic syndromic intellectual disability with characteristics of motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behaviour. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13985391000172111	syndrome de macrocéphalie, déficience intellectuelle et non-compaction ventriculaire gauche	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13985401000172113	syndrome de macrocéphalie, déficience intellectuelle et non-compaction du ventricule gauche	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7390711000172111	syndroom van macrocefalie, mentale retardatie en LVNC	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7390721000172118	syndroom van macrocefalie, verstandelijke beperking en non-compactiecardiomyopathie van linker ventrikel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7390731000172115	syndroom van macrocefalie, verstandelijke handicap en NCCM van linker ventrikel	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)