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

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

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

\Finding of general physiological development\Disorder of stature\Short stature disorder (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 (disorder)\Developmental hereditary disorder\Ear, patella, short stature syndrome (disorder)
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (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	Existential restriction modifier (core metadata concept)
Ear, patella, short stature syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ear, patella, short stature syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ear, patella, short stature syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Ear, patella, short stature syndrome (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
3008731011	Microtia, absent patellae, micrognathia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character case insensitive (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
3450941001000116	Ohr-Patella-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094531000241110	syndrome de Meier-Gorlin	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094541000241117	syndrome de microtie, patella absente et micrognathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094551000241119	syndrome de microtie, anomalies squelettiques et petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094531000241110	syndrome de Meier-Gorlin	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094541000241117	syndrome de microtie, patella absente et micrognathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6094551000241119	syndrome de microtie, anomalies squelettiques et petite taille	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450941001000116	Ohr-Patella-Kleinwuchs-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module