770750002: Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Body measurement finding\Weight finding\High body weight (finding)\Obese\Obesity\Childhood obesity (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Obesity\Childhood obesity (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Intellectual disability, seizures, macrocephaly, obesity 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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity 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\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702446016	Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702447013	Intellectual disability, seizures, macrocephaly, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404907015	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404908013	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterised by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3702446016	Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702447013	Intellectual disability, seizures, macrocephaly, obesity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3702448015	A rare syndromic obesity due to complex chromosomal rearrangement with characteristics of development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404907015	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404908013	Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterised by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3444091001000119	Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377101000241113	syndrome de déficience intellectuelle, convulsions, macrocéphalie et obésité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6377101000241113	syndrome de déficience intellectuelle, convulsions, macrocéphalie et obésité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444091001000119	Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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