703508009: Ear, patella, short stature syndrome (disorder)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Ear, patella, short stature syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Ear, patella, short stature syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ear, patella, short stature syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Ear, patella, short stature syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ear, patella, short stature syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Ear, patella, short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ear, patella, short stature syndrome (disorder)	Is a	Primordial dwarfism	true	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Ear, patella, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ear, patella, short stature syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ear, patella, short stature 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
3008731011	Microtia, absent patellae, micrognathia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008783016	Ear, patella, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008797012	Meier-Gorlin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008846014	Ear, patella, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11856021000172112	syndrome de Meier-Gorlin	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11856031000172110	syndrome de microtie, patella absente et micrognathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11856041000172115	syndrome de microtie, anomalies squelettiques et petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119411000172115	Meier-Gorlin-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5119421000172113	syndroom van Meier-Gorlin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119431000172111	syndroom van oor, patella en kleine gestalte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119441000172116	syndroom met microtie, afwezige patella en micrognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5119451000172119	microtie-afwezige patella-micrognathie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)