771512003: Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Finding of head and neck region\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\Autism spectrum disorder due to AUTS2 deficiency
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \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\Autism spectrum disorder due to AUTS2 deficiency
• \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\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Autism spectrum disorder due to AUTS2 deficiency

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
3706566013	Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706567016	Autism spectrum disorder due to AUTS2 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706568014	Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3706569018	AUTS2 syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706570017	A rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706571018	A rare genetic syndromic intellectual disability characterised by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behaviour, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. Caused by heterozygous intragenic copy number variation in the KIAA0442 gene (AUTS2) on chromosome 7q11.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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