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1187277001: Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
4673075011 Short stature, brachydactyly, obesity, global developmental delay syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
4673076012 Short stature, brachydactyly, obesity, global developmental delay syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4673077015 SBIDDS - short stature, brachydactyly, impaired intellectual development, seizures 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, brachydactyly, obesity, global developmental delay syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Global developmental delay true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Acromesomelic dysplasia group true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Finding of bone in hand true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Brachydactyly of hand true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Congenital hypoplasia of part of upper limb true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Interprets Body height measure true Inferred relationship Existential restriction modifier 4
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 4
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Finding site Entire digit of hand true Inferred relationship Existential restriction modifier 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Short stature, brachydactyly, obesity, global developmental delay syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Short stature, brachydactyly, obesity, global developmental delay syndrome Finding site Bone structure of distal phalanx of hand true Inferred relationship Existential restriction modifier 3
Short stature, brachydactyly, obesity, global developmental delay syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 3
Short stature, brachydactyly, obesity, global developmental delay syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Short stature, brachydactyly, obesity, global developmental delay syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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