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


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3706566013 Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3706567016 Autism spectrum disorder due to AUTS2 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
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 SNOMED CT core module
3706569018 AUTS2 syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Finding site Face structure true Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Autistic disorder true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Global developmental delay true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Intellectual disability true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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