OMOP Concept 4232178
Shwachman syndrome
StandardConditionSNOMED89454001Disorder
Maps from
5
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
5 source codes normalize to Shwachman syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 126528 | Shwachman Syndrome | Non-standard |
| ICD10CM | D61.02 | Shwachman-Diamond syndrome | Non-standard |
| MeSH | D000081003 | Shwachman-Diamond Syndrome | Non-standard |
| Nebraska Lexicon | 89454001 | Metaphyseal dysplasia with malabsorption and neutropenia | Non-standard |
| Read | PJ53500 | Shwachman-Diamond syndrome | Non-standard |
Synonyms
Alternative names recorded for Shwachman syndrome across source vocabularies.
- condrodisplasia metafisaria con insuficiencia pancreática Y neutropenia
- Congenital lipomatosis of pancreas
- Metaphyseal chondrodysplasia, Shwachman type
- Metaphyseal chondrodysplasia with pancreatic insufficiency AND neutropenia
- Metaphyseal dysplasia with malabsorption and neutropenia
- Schwachman-Bodian syndrome
- Schwachman-Diamond syndrome
- Schwachmann-Diamond syndrome
- Schwachman's syndrome
- Shwachman-Diamond syndrome
- Shwachman's syndrome
- Shwachman syndrome (disorder)
- síndrome de Shwachman
- síndrome de Shwachman - Diamond
- síndrome de Shwachman (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(82)Roll up to these when you need a wider cohort.
- 1Congenital neutropenia
- 1Developmental hereditary disorder
- 1Digestive system hereditary disorder
- 1Disorder of digestive system specific to fetus OR newborn
- 1Hereditary cancer-predisposing syndrome
- 1Hereditary disorder of endocrine system
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary white blood cell disorder
- 1Metaphyseal chondrodysplasia
- 1Pancreatic insufficiency
- 2Congenital anomaly of skeletal bone
- 2Congenital immunodeficiency disease
- 2Congenital malformation syndromes associated with short stature
- 2Developmental disorder
- 2Disorder of digestive system
- 2Disorder of endocrine system
- 2Disorder of fetus and/or newborn
- 2Disorder of musculoskeletal system
- 2Disorder of pancreas
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary disorder of cellular element of blood
- 2Hereditary disorder of immune system
- 2Neutropenic disorder
- 2OMOP Neutropenia 1
Get this concept via the API
Resolve Shwachman syndrome - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/4232178?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card