20052008: hereditaire fructose-intolerantie (aandoening)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hereditary fructosuria

\Metabolic disease\Enzymopathy\Hereditary fructosuria
\Metabolic disease\Disorder of carbohydrate metabolism\Fructose metabolism disorder (disorder)\Fructosuria\Hereditary fructosuria

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

33746011 Hereditary fructosuria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33747019 Fructose-1-phosphate aldolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33748012 Hereditary fructose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

33749016 Fructose-biphosphate aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

33750016 ALDB deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

33751017 Aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

480276016 Fructosaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

480278015 Fructose-1,6-bisphosphate aldolase B deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

480279011 Fructose intolerance en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

480280014 Fructosemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1186813010 Fructose-1,6-bisphosphate aldolase B deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2646446018 ALDB - aldolase B deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1531011000146117 erfelijke fructose-intolerantie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2353121000146112 hereditaire fructose-intolerantie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2353131000146114 hereditaire fructose-intolerantie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2353141000146118 fructose-1,6-bisphosphate-aldolase-B-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

2353151000146115 adolase-B-deficiëntie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13070171000146110 Recessief erfelijke ziekte die zich kenmerkt door braken en vergroting van de lever na het gebruik van vruchtensuiker. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary fructosuria	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Hereditary fructosuria	Is a	Fructosuria	true	Inferred relationship	Some
Hereditary fructosuria	Is a	Enzymopathy	true	Inferred relationship	Some
Hereditary fructosuria	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hereditary fructosuria	Finding site	Body system structure	false	Inferred relationship	Some
Hereditary fructosuria	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Essential benign fructosuria	Is a	False	Hereditary fructosuria	Inferred relationship	Some

This concept is not in any reference sets