408856003: Autistic disorder (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2464307018 Autistic disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2470702016 Autistic disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2477201014 Kanner's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2579633010 Autism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2920654012 Autism disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1592901000005110 Autisme da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autisme	Is a	Pervasive developmental disorder (disorder)	false	Inferred relationship	Some
Autisme	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile autism (disorder)	Is a	False	Autisme	Inferred relationship	Some
Autistic disorder of childhood onset	Is a	False	Autisme	Inferred relationship	Some
Infantil autisme, ikke nærmere specificeret	Is a	False	Autisme	Inferred relationship	Some
Family history of autism	Associated finding	False	Autisme	Inferred relationship	Some	1
Suspected autism	Associated finding	False	Autisme	Inferred relationship	Some	1
Suspected autism	Associated finding	False	Autisme	Inferred relationship	Some	1
Family history of autism	Associated finding	False	Autisme	Inferred relationship	Some	1
Family history of autism	Associated finding	False	Autisme	Inferred relationship	Some	1
Family history of autism in sibling	Associated finding	False	Autisme	Inferred relationship	Some	1
High-functioning autism (disorder)	Is a	False	Autisme	Inferred relationship	Some
1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.	Is a	False	Autisme	Inferred relationship	Some
Autism and facial port-wine stain syndrome	Is a	False	Autisme	Inferred relationship	Some
A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	Is a	False	Autisme	Inferred relationship	Some
A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.	Is a	False	Autisme	Inferred relationship	Some
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.	Is a	False	Autisme	Inferred relationship	Some
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.	Is a	False	Autisme	Inferred relationship	Some
Screening for autism	Has focus	False	Autisme	Inferred relationship	Some	1

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)