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\Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (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
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
3008403015	Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character case insensitive (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
3442841001000113	GRACILE-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6036091000241116	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)	SNOMED CT Switzerland NRC maintained Module
6036101000241113	syndrome GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6036111000241110	maladie de Fellman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6036091000241116	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)	SNOMED CT Switzerland NRC maintained Module
6036101000241113	syndrome GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6036111000241110	maladie de Fellman	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3442841001000113	GRACILE-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start