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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3047531014	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047532019	KBG syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5155227012	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5155228019	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047530010	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047530010	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047531014	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047531014	Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047532019	KBG syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5155227012	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5155228019	Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3409281001000119	KBG-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5465021000241113	syndrome de petite taille, anomalies faciales et squelettiques, déficience intellectuelle et macrodontie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5465021000241113	syndrome de petite taille, anomalies faciales et squelettiques, déficience intellectuelle et macrodontie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409281001000119	KBG-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start