711156009: Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\KBG syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\KBG syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\KBG syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\KBG syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\KBG syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\KBG syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\KBG syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\KBG syndrome

Status: current, Primitive. Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1720761000168118	Short stature-characteristic facies-intellectual disability-macrodontia-skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED Clinical Terms Australian extension
3047531014	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3047532019	KBG syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5155227012	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5155228019	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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