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703508009: syndroom van oor, patella en kleine gestalte (aandoening)

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
6215381000146113	Meier-Gorlin-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6215391000146110	microtie-afwezige patella-micrognathie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6215411000146110	syndroom van Meier-Gorlin	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6549061000146117	syndroom met microtie, afwezige patella en micrognathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12575581000146116	syndroom van oor, patella en kleine gestalte	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12575591000146119	syndroom van oor, patella en kleine gestalte (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)