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Terminology chevron_right Concepts chevron_right 54898003

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54898003
The component that hold information about this concept.
Multiple sulfatase deficiency (disorder)
Mucosulfatidosis
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

Multiple sulfatase deficiency (disorder)

SCTID: 54898003, Primitive, Active


54898003|Multiple sulfatase deficiency (disorder)|
  • en Mucosulfatidosis
  • en Mucosulphatidosis
  • en Multiple sulfatase deficiency
  • en Multiple sulfatase deficiency (disorder)
  • en Multiple sulphatase deficiency
  • en Juvenile sulfatidosis austin type
  • en Juvenile sulphatidosis austin type
  • en Juvenile sulfatidosis, austin type
  • en Juvenile sulphatidosis, austin type

54898003 |Multiple sulfatase deficiency (disorder)|

<<< 238028008 |Sphingolipidosis (disorder)| +
    85995004 |Autosomal recessive hereditary disorder (disorder)| +
    23585005 |Disorder of lysosomal enzyme (disorder)| :
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
Active

91259014 - Mucosulfatidosis (en) View

91259014
en
Synonym (core metadata concept)
Mucosulfatidosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

497079016 - Mucosulphatidosis (en) View

497079016
en
Synonym (core metadata concept)
Mucosulphatidosis
900000000000448009 |Entire term case insensitive (core metadata concept)|
Acceptable
True

91256019 - Multiple sulfatase deficiency (en) View

91256019
en
Synonym (core metadata concept)
Multiple sulfatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

793179010 - Multiple sulfatase deficiency (disorder) (en) View

793179010
en
Fully specified name (core metadata concept)
Multiple sulfatase deficiency (disorder)
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

497080018 - Multiple sulphatase deficiency (en) View

497080018
en
Synonym (core metadata concept)
Multiple sulphatase deficiency
900000000000448009 |Entire term case insensitive (core metadata concept)|
Preferred
True

1218226018 - Juvenile sulfatidosis Austin type (en) View

1218226018
en
Synonym (core metadata concept)
Juvenile sulfatidosis Austin type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

1216736016 - Juvenile sulphatidosis Austin type (en) View

1216736016
en
Synonym (core metadata concept)
Juvenile sulphatidosis Austin type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

91258018 - Juvenile sulfatidosis, Austin type (en) View

91258018
en
Synonym (core metadata concept)
Juvenile sulfatidosis, Austin type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

497081019 - Juvenile sulphatidosis, Austin type (en) View

497081019
en
Synonym (core metadata concept)
Juvenile sulphatidosis, Austin type
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
True

91257011 - Multiple sulfatase deficiency, NOS (en) View

91257011
en
Synonym (core metadata concept)
Multiple sulfatase deficiency, NOS
900000000000020002 |Only initial character case insensitive (core metadata concept)|
Acceptable
False

23585005 View

23585005
Disorder of lysosomal enzyme (disorder)
Lysosomal enzyme defect
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

238028008 View

238028008
Sphingolipidosis (disorder)
Sphingolipidosis
900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|
True

ExtendedMap object (ec0ec087-b035-5906-ac95-a942915b441c) 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)|
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