35919005: Pervasive developmental disorder (disorder)

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

\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)

\Developmental disorder\Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pervasive developmental disorder (disorder)	Is a	Disorder of psychological development	true	Inferred relationship	Some
Pervasive developmental disorder (disorder)	Finding site	Brain structure	false	Inferred relationship	Some
Pervasive developmental disorder (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Atypical autism	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Asperger's disorder	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Rett syndrome	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Childhood disintegrative disorder	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Idiot savant	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
[X]Overactive disorder associated with mental retardation and stereotyped movements	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
[X]Other pervasive developmental disorders	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
[X]Pervasive developmental disorder, unspecified	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
[X]Other childhood disintegrative disorder	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Autistic spectrum disorder with isolated skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Autistic disorder	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
trouble autistique	Is a	False	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Savant syndrome (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Active but odd autism	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder of residual state	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
FOXG1 syndrome	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pathological demand avoidance	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
A rare, complex chromosomal duplication/inversion in the region 15q11.2-q13.1 characterized by early central hypotonia, global developmental delay and intellectual deficit, autistic behavior, and seizures.	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with marked impairment of functional language without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with impairment of functional language (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with marked impairment of functional language with loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and pervasive impairment of functional language without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development with loss of previously acquired skills	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language with loss of previously acquired skills	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and marked impairment of functional language without loss of previously acquired skills	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and absence of functional language with loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with disorder of intellectual development and complete impairment of functional language with loss of previously acquired skills	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with severe impairment of functional language with loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with severe impairment of functional language without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with abscence of functional language (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with complete impairment of functional language with loss of previously acquired skills	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with complete impairment of functional language without loss of previously acquired skills (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with complete impairment of functional language (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Pervasive developmental disorder with cognitive developmental delay and marked impairment of functional language (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Family history of autism	Associated finding	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some	1
Autism suspected	Associated finding	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some	1
Screening for autism	Has focus	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some	1
Family history of autism in sibling	Associated finding	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some	1
High-functioning autism (disorder)	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Autistic disorder of childhood onset	Is a	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
Infantile autism (disorder)	Is a	True	Pervasive developmental disorder (disorder)	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	True	Pervasive developmental disorder (disorder)	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, stereotypies, 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.	Is a	True	Pervasive developmental disorder (disorder)	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	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
syndrome d'autisme-angiome facial	Is a	False	Pervasive developmental disorder (disorder)	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	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some
A rare, genetic, neurological disease characterized by 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	True	Pervasive developmental disorder (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
59939011	Pervasive developmental disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767612017	Pervasive developmental disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3078949014	Autism spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5181745012	Autism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
939631000195111	disturbo pervasivo dello sviluppo	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
294681000172113	trouble du spectre de l'autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
414531000172113	trouble envahissant du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
901991000195112	Tiefgreifende Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
902001000195110	Pervasive Entwicklungsstörung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module