Loading...
dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 238018004

Production
add
  • Language with ID “91671090-d6f8-5eba-92ab-b2eb25d34712” doesn’t exist. Perhaps it was deleted?
238018004
The component that hold information about this concept.
Total hexosaminidase deficiency - infantile (disorder)
Total hexosaminidase deficiency - infantile
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

Total hexosaminidase deficiency - infantile (disorder)

SCTID: 238018004, Primitive, Active


238018004|Total hexosaminidase deficiency - infantile (disorder)|
  • en Total hexosaminidase deficiency - infantile
  • en Total hexosaminidase deficiency - infantile (disorder)

238018004 |Total hexosaminidase deficiency - infantile (disorder)|

<<< 62440002 |Infantile gm 2 gangliosidosis (disorder)| +
    23849003 |Sandhoff disease (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

356755012 - Total hexosaminidase deficiency - infantile (en) View

356755012
en
Synonym (core metadata concept)
Total hexosaminidase deficiency - infantile
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

626838014 - Total hexosaminidase deficiency - infantile (disorder) (en) View

626838014
en
Fully specified name (core metadata concept)
Total hexosaminidase deficiency - infantile (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

23849003 View

23849003
Sandhoff disease (disorder)
O variant
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

62440002 View

62440002
Infantile gm 2 gangliosidosis (disorder)
Infantile gm2 gangliosidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (af778c73-e0b3-5f44-96a9-1a087c8e1598) View

447562003 |Icd-10 complex map reference set (foundation metadata concept)|
E75.0
TRUE
ALWAYS E75.0
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