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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\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
• \affection de la tête\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
• \affection de la tête\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\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\affection de la tête\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\affection de la tête\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\trouble mental\troubles mentaux du développement\Disorder of psychological development\Autism spectrum disorder\Autistic disorder (disorder)\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\Congenital disease\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\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Disorder of psychological development\Autism spectrum disorder\Autistic disorder (disorder)\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\trouble du développement\Developmental hereditary disorder\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Autism spectrum disorder due to AUTS2 deficiency
• \Disease\trouble du développement\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\trouble du développement\retard de développement\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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