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Terminology chevron_right Concepts chevron_right 303852004

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303852004
The component that hold information about this concept.
Lysinuric protein intolerance (disorder)
Congenital lysinuria
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Lysinuric protein intolerance (disorder)

SCTID: 303852004, Primitive, Active


303852004|Lysinuric protein intolerance (disorder)|
  • en Dibasic amino aciduria ii
  • en Congenital lysinuria
  • en Hyperdibasic aminoaciduria
  • en Lysinuric protein intolerance
  • en Lysinuric protein intolerance (disorder)
  • en Lpi - lysinuric protein intolerance

303852004 |Lysinuric protein intolerance (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    86095007 |Inborn error of metabolism (disorder)| +
    236475007 |Dibasic aminoaciduria (disorder)| +
    367591000119105 |Hereditary nephropathy (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
Active

5480315019 - Dibasic amino aciduria II (en) View

5480315019
en
Synonym (core metadata concept)
Dibasic amino aciduria II
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

446074018 - Congenital lysinuria (en) View

446074018
en
Synonym (core metadata concept)
Congenital lysinuria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

446072019 - Hyperdibasic aminoaciduria (en) View

446072019
en
Synonym (core metadata concept)
Hyperdibasic aminoaciduria
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

446071014 - Lysinuric protein intolerance (en) View

446071014
en
Synonym (core metadata concept)
Lysinuric protein intolerance
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

700084016 - Lysinuric protein intolerance (disorder) (en) View

700084016
en
Fully specified name (core metadata concept)
Lysinuric protein intolerance (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

446073012 - LPI - Lysinuric protein intolerance (en) View

446073012
en
Synonym (core metadata concept)
LPI - Lysinuric protein intolerance
900000000000017005 |Entire term case sensitive (core metadata concept)|
Acceptable
True

Relationship (129938028) - 303852004 -> 16784003 (116680003) View

116680003 |Is a (attribute)|
16784003 |Amino acid transport disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (16436212020) - 303852004 -> 85995004 (116680003) View

116680003 |Is a (attribute)|
85995004 |Autosomal recessive hereditary disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16436213026) - 303852004 -> 86095007 (116680003) View

116680003 |Is a (attribute)|
86095007 |Inborn error of metabolism (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16436214021) - 303852004 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16436637024) - 303852004 -> 236475007 (116680003) View

116680003 |Is a (attribute)|
236475007 |Dibasic aminoaciduria (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16436638025) - 303852004 -> 367591000119105 (116680003) View

116680003 |Is a (attribute)|
367591000119105 |Hereditary nephropathy (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (16436639022) - 303852004 -> 64033007 (363698007) View

363698007 |Finding site (attribute)|
64033007 |Kidney structure (body structure)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (663728027) - 303852004 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (663727021) - 303852004 -> 91689009 (363698007) View

363698007 |Finding site (attribute)|
91689009 |Body system structure (body structure)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

367591000119105 View

367591000119105
Hereditary nephropathy (disorder)
Hereditary nephropathy
900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|
True

85995004 View

85995004
Autosomal recessive hereditary disorder (disorder)
Hereditary disorder trait, nos
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

86095007 View

86095007
Inborn error of metabolism (disorder)
Inborn error of metabolism
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

236475007 View

236475007
Dibasic aminoaciduria (disorder)
Dibasic aminoaciduria
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (a12d0301-a013-5d58-b2b9-0fc293201439) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E72.8
TRUE
ALWAYS E72.8
447561005 |Snomed ct source code to target map code correlation not specified (foundation metadata concept)|
447637006 |Map source concept is properly classified (foundation metadata concept)|
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