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

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

\Head finding (finding)\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\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 (disorder)\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\Intellectual disability\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Childhood obesity (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)

\Disease\Obesity (disorder)\Childhood obesity (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\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 (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (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)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 (disorder)\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\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Intellectual disability, seizures, macrocephaly, obesity 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\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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Associated morphology	Congenital enlargement	false	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Childhood obesity (disorder)	true	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Interprets	Body weight measure	true	Inferred relationship	Some	4
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	Childhood	true	Inferred relationship	Some	5
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Macrocephaly	false	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	7
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	7
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	8
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	8

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
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