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1237512003: Short stature, developmental delay, congenital heart defect syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5099583014 Short stature, developmental delay, congenital heart defect syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
5099584015 Short stature, developmental delay, congenital heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5099588017 TKT (transketolase) deficiency 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
Short stature, developmental delay, congenital heart defect syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Congenital heart disease true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Cardiac complication true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Pentose disorder true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Short stature, developmental delay, congenital heart defect syndrome Due to Deficiency of transketolase true Inferred relationship Existential restriction modifier 5
Short stature, developmental delay, congenital heart defect syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Short stature, developmental delay, congenital heart defect syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Short stature, developmental delay, congenital heart defect syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Short stature, developmental delay, congenital heart defect syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Short stature, developmental delay, congenital heart defect syndrome Interprets Body height measure true Inferred relationship Existential restriction modifier 4
Short stature, developmental delay, congenital heart defect syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 4
Short stature, developmental delay, congenital heart defect syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Short stature, developmental delay, congenital heart defect syndrome Finding site Heart structure true Inferred relationship Existential restriction modifier 1
Short stature, developmental delay, congenital heart defect syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Short stature, developmental delay, congenital heart defect syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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