703388005: GRACILE-syndroom (aandoening)

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

6233891000146111 GRACILE-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233901000146112 syndroom van Fellman nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233911000146114 letaal neonataal metabool syndroom van Fins type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233921000146116 Fellman-ziekte nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233931000146119 '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) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233941000146110 groeiachterstand-aminoacidurie-cholestase-ijzerstapeling-lactaatacidose-vroeg overlijden-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233951000146113 GRACILE-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6233961000146111 lactaatacidose met hepatische hemosiderose van Fins type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6549751000146118 syndroom met groeiachterstand, aminoacidurie, cholestase, ijzerstapeling, lactaatacidose en vroeg overlijden nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
GRACILE syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
GRACILE syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets