711156009: Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)

\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\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	Congenital malformation	false	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	multisystemsjukdom	false	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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	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
3775401000052117	KBG-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)