OMOP Concept 4049596
Mucopolysaccharidosis, MPS-III-D
StandardConditionSNOMED15892005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Mucopolysaccharidosis, MPS-III-D via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 115598 | Deficiency of N-acetylglucosamine-6-sulfatase | Non-standard |
| Nebraska Lexicon | 15892005 | N-acetylglucosamine-6-sulphatase deficiency | Non-standard |
Synonyms
Alternative names recorded for Mucopolysaccharidosis, MPS-III-D across source vocabularies.
- deficiencia de N - acetilglucosamina - 6 - sulfatasa
- Deficiency of N-acetylglucosamine-6-sulfatase
- Deficiency of N-acetylglucosamine-6-sulphatase
- MPS III-D - Mucopolysaccharidosis III-D
- MPSIIID - Mucopolysaccharidosis type IIID
- mucopolisacaridosis,III-D
- mucopolisacaridosis,III-D (trastorno)
- mucopolisacaridosis, MPS - III - D
- Mucopolysaccharidosis III-D
- Mucopolysaccharidosis III-D (disorder)
- Mucopolysaccharidosis type IIID
- N-acetylglucosamine-6-sulfatase deficiency
- N-acetylglucosamine-6-sulphatase deficiency
- Sanfilippo syndrome D
- Sanfilippo syndrome, type D
- síndrome de Sanfilippo, tipo D
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Sanfilippo syndrome
- 2Autosomal recessive hereditary disorder
- 2Mucopolysaccharidosis
- 3Autosomal hereditary disorder
- 3Disorder of lysosomal enzyme
- 3Lysosomal storage disease
- 4Congenital disease
- 4Enzymopathy
- 4Hereditary disease
- 4Storage disease
- 5Disorder of fetus and/or newborn
- 5Genetic disease
- 5Inborn error of metabolism
- 5Metabolic disease
- 6Disease
- 6Hereditary metabolic disease
- 7Clinical finding
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