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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \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\Macrocephaly, intellectual disability, autism syndrome
• \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\Macrocephaly, intellectual disability, autism syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \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\Macrocephaly, intellectual disability, autism syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Macrocephaly, intellectual disability, autism syndrome
• \Body measurement finding\Finding of head circumference (finding)\Macrocephaly (finding)\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Macrocephaly, intellectual disability, autism syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \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\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \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\Macrocephaly, intellectual disability, autism syndrome
• \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
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \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
• \Disease\Mental disorder (disorder)\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital macrocephaly\Macrocephaly, intellectual disability, autism syndrome
• \Disease\Developmental disorder (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

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
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
3439771001000118	Makrozephalie-Intelligenzminderung-Autismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027121000241115	syndrome de macrocéphalie, déficience intellectuelle et autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6027121000241115	syndrome de macrocéphalie, déficience intellectuelle et autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3439771001000118	Makrozephalie-Intelligenzminderung-Autismus-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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