SNOMED CT Concept  138875005

Clinical finding  404684003

Disease  64572001

Genetic disease  782964007

Hereditary disease  32895009

Autosomal hereditary disorder  1899006

Autosomal recessive hereditary disorder  85995004

Tay-Sachs disease  111385000

B variant hexosaminidase A deficiency   192787004

SNOMED CT code


SNOMED code192787004
nameB variant hexosaminidase A deficiency
statusactive
date introduced2002-01-31
fully specified name(s)B variant hexosaminidase A deficiency (disorder)
synonymsB variant hexosaminidase A deficiency
attributes - group1
OccurrenceCongenital   255399007
attributes - group2
Finding siteNervous system structure   25087005
parentsTay-Sachs disease   111385000
children
  • B variant hexosaminidase A deficiency - adult   238023004
  • B variant hexosaminidase A deficiency - infantile   238021002
  • B variant hexosaminidase A deficiency - juvenile   238022009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Tay-Sachs disease   111385000
                B variant hexosaminidase A deficiency   192787004

ancestors
sorted most to least specific
cpt crosswalks

Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts.  Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.

Access to this feature is available in the following products:
  • CPT® to SNOMED Crosswalks

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