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:

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

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

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This concept is not in any reference sets