703388005: Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\GRACILE syndrome

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
3008403015	Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3008466014	Fellman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008482010	Finnish lethal neonatal metabolic syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008518016	GRACILE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008540013	Finnish lactic acidosis with hepatic hemosiderosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3008547011	Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11362311000172110	syndrome de retard de croissance, aminoacidurie, cholestase, surcharge en fer, acidose lactique et mort précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11362321000172117	syndrome GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
11362331000172119	maladie de Fellman	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478011000172118	lactaatacidose met hepatische hemosiderose van Fins type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478021000172111	Fellman-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4478031000172114	GRACILE-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4478041000172119	'growth retardation-amino aciduria-cholestasis-iron overload-lactic acidosis-early death'-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478051000172117	groeiachterstand-aminoacidurie-cholestase-ijzerstapeling-lactaatacidose-vroeg overlijden-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478061000172115	letaal neonataal metabool syndroom van Fins type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478071000172112	syndroom van Fellman	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4478081000172110	syndroom met groeiachterstand, aminoacidurie, cholestase, ijzerstapeling, lactaatacidose en vroeg overlijden	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start