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1179408008: Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Oct 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4651033017 Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4651034011 CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4651035012 Snijders Blok-Campeau syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
4651036013 Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a Speech delay true Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Interprets Ability to perform functions related to communication true Inferred relationship Existential restriction modifier 2
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation Abnormal true Inferred relationship Existential restriction modifier 2
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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