Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 870313002

Production
add
870313002
The component that hold information about this concept.
Perinatal lethal gaucher disease (disorder)
Perinatal lethal gaucher disease
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

Perinatal lethal gaucher disease (disorder)

SCTID: 870313002, Primitive, Active


870313002|Perinatal lethal gaucher disease (disorder)|
  • en Perinatal lethal gaucher disease
  • en Perinatal lethal gaucher disease (disorder)

870313002 |Perinatal lethal gaucher disease (disorder)|

<<< 85995004 |Autosomal recessive hereditary disorder (disorder)| +
    190794006 |Glucosylceramide beta-glucosidase deficiency (disorder)| +
    206481000 |Perinatal endocrine and metabolic disorders (disorder)| :
        { 246454002 |Occurrence (attribute)| = 1156684004 |Fetal antepartum and/or intrapartum and/or early neonatal period (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

3968884015 - Perinatal lethal Gaucher disease (en) View

3968884015
en
Synonym (core metadata concept)
Perinatal lethal Gaucher disease
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

3968883014 - Perinatal lethal Gaucher disease (disorder) (en) View

3968883014
en
Fully specified name (core metadata concept)
Perinatal lethal Gaucher disease (disorder)
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Preferred
True

Relationship (15686667026) - 870313002 -> 255399007 (246454002) View

246454002 |Occurrence (attribute)|
255399007 |Congenital (qualifier value)|
2
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12824895024) - 870313002 -> 415073005 (116680003) View

116680003 |Is a (attribute)|
415073005 |Perinatal disorder (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14912449028) - 870313002 -> 206481000 (116680003) View

116680003 |Is a (attribute)|
206481000 |Perinatal endocrine and metabolic disorders (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12824896020) - 870313002 -> 371578004 (246454002) View

246454002 |Occurrence (attribute)|
371578004 |Perinatal period (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
False

Relationship (14010663027) - 870313002 -> 1156684004 (246454002) View

246454002 |Occurrence (attribute)|
1156684004 |Fetal antepartum and/or intrapartum and/or early neonatal period (qualifier value)|
1
900000000000011006 |Inferred relationship (core metadata concept)|
True

Relationship (12824893028) - 870313002 -> 85995004 (116680003) View

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

Relationship (12824894023) - 870313002 -> 190794006 (116680003) View

116680003 |Is a (attribute)|
190794006 |Glucosylceramide beta-glucosidase deficiency (disorder)|
0
900000000000011006 |Inferred relationship (core metadata concept)|
True

206481000 View

206481000
Perinatal endocrine and metabolic disorders (disorder)
Perinatal endocrine and metabolic problems
900000000000074008 |Necessary but not sufficient concept 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

190794006 View

190794006
Glucosylceramide beta-glucosidase deficiency (disorder)
Gaucher disease
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (9b97bdb8-6df8-556b-a678-febdecc6e030) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.2
TRUE
ALWAYS E75.2
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)|
esc