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1220568003: Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5045199019 QRICH1-related intellectual disability, chondrodysplasia syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5045200016 Ververi Brady syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5045201017 Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5045202012 Glutamine rich 1-related intellectual disability, chondrodysplasia 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
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Chondrodysplasia true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Interprets Body height true Inferred relationship Existential restriction modifier 3
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 3
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 2
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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