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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\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\KBG syndrome

\Finding of general physiological development\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 (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\KBG syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\KBG syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\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, 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

7741701000172113 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) Belgian module (core metadata concept)

4235861000172119 KBG-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4235871000172111 syndroom van kleine gestalte, faciale en skeletale anomalieën, intellectuele achterstand en macrodontie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
KBG syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
KBG syndrome	Is a	Congenital malformation	false	Inferred relationship	Some
KBG syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
KBG syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
KBG syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
KBG syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
KBG syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
KBG syndrome	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
KBG syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
KBG syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records

Back to Start

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
7741701000172113	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)	Belgian module (core metadata concept)
4235861000172119	KBG-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4235871000172111	syndroom van kleine gestalte, faciale en skeletale anomalieën, intellectuele achterstand en macrodontie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)