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398664009: Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1778188017 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786514018 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2914538014 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914763012 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1766583010 Deficiency of UTP-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1778188017 Deficiency of UTP-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1783653010 Transferase deficiency galactosaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1783654016 Classical galactosaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1784041019 Transferase deficiency galactosemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1784042014 Classical galactosemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786510010 Deficiency of galactose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786511014 Galactose-1-phosphate uridyl transferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786512019 GALT deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786513012 Galactose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786514018 UTP-hexose-1-phosphate uridyltransferase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786515017 Deficiency of galactose-1-phosphate uridyl transferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914538014 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914538014 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914763012 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914763012 Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Deficiency of transferase true Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a Galactosaemia false Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Causative agent (attribute) UTP-hexose-1-phosphate uridylyltransferase true Inferred relationship Existential restriction modifier (core metadata concept) 1
Deficiency of UTP-hexose-1-phosphate uridylyltransferase Is a trouble causé par un médicament false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Classical galactosemia, homozygous Duarte-type (disorder) Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)
Classical galactosemia, heterozygous type Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)
Classical galactosemia, homozygous Negro-type Is a True Deficiency of UTP-hexose-1-phosphate uridylyltransferase Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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