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Terminology chevron_right Concepts chevron_right 238021002

Production
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  • Language with ID “4e504ca2-eb55-5dad-9b64-d2ba007a7840” doesn’t exist. Perhaps it was deleted?
238021002
The component that hold information about this concept.
B variant hexosaminidase a deficiency - infantile (disorder)
B variant hexosaminidase a 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

B variant hexosaminidase a deficiency - infantile (disorder)

SCTID: 238021002, Primitive, Active


238021002|B variant hexosaminidase a deficiency - infantile (disorder)|
  • en B variant hexosaminidase a deficiency - infantile (disorder)
  • en B variant hexosaminidase a deficiency - infantile

238021002 |B variant hexosaminidase a deficiency - infantile (disorder)|

<<< 192787004 |B variant hexosaminidase a deficiency (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
Active

626842012 - B variant hexosaminidase A deficiency - infantile (disorder) (en) View

626842012
en
Fully specified name (core metadata concept)
B variant hexosaminidase A deficiency - infantile (disorder)
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

356758014 - B variant hexosaminidase A deficiency - infantile (en) View

356758014
en
Synonym (core metadata concept)
B variant hexosaminidase A deficiency - infantile
900000000000017005 |Entire term case sensitive (core metadata concept)|
Preferred
True

192787004 View

192787004
B variant hexosaminidase a deficiency (disorder)
B variant hexosaminidase a deficiency
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (aa50f711-9b0a-5965-b57c-e9a4fb399bed) 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