783089006: Macrocephaly, intellectual disability, autism syndrome (disorder)

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

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

\Body measurement finding\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism syndrome (disorder)

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

\Finding of head circumference\Macrocephaly (finding)\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism 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, autism 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, autism syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Macrocephaly, intellectual disability, autism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrocephaly, intellectual disability, autism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly (disorder)\Macrocephaly, intellectual disability, autism 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, autism syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3757538016 Macrocephaly, intellectual disability, autism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757539012 Macrocephaly, intellectual disability, autism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3757540014 A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

11354991000172115 syndrome de macrocéphalie, déficience intellectuelle et autisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5094091000172110 syndroom van macrocefalie, verstandelijke beperking en autisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5094101000172119 syndroom van macrocefalie, verstandelijke handicap en autisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5094111000172116 syndroom van macrocefalie, mentale retardatie en autisme 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
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	trouble autistique	false	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	macrocéphalie	false	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Associated morphology	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Finding site	Entire head	false	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, autism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Finding site	Head structure	true	Inferred relationship	Some	1
Macrocephaly, intellectual disability, autism syndrome (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Some	3
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Congenital macrocephaly (disorder)	true	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Interprets	Head circumference	true	Inferred relationship	Some	3
Macrocephaly, intellectual disability, autism syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Macrocephaly, intellectual disability, autism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Macrocephaly, intellectual disability, autism syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Macrocephaly, intellectual disability, autism syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	Pervasive developmental disorder (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
3757538016	Macrocephaly, intellectual disability, autism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757539012	Macrocephaly, intellectual disability, autism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3757540014	A rare genetic neurological disease with the association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose and long philtrum.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11354991000172115	syndrome de macrocéphalie, déficience intellectuelle et autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5094091000172110	syndroom van macrocefalie, verstandelijke beperking en autisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5094101000172119	syndroom van macrocefalie, verstandelijke handicap en autisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5094111000172116	syndroom van macrocefalie, mentale retardatie en autisme	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)