OMOP Concept 36717326
DK phocomelia syndrome
StandardConditionSNOMED719021005Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to DK phocomelia syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C565618 | DK Phocomelia Syndrome | Non-standard |
| Nebraska Lexicon | 719021005 | Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome | Non-standard |
Synonyms
Alternative names recorded for DK phocomelia syndrome across source vocabularies.
- DK phocomelia syndrome (disorder)
- Phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome
- síndrome de focomelia-DK
- síndrome de focomelia-DK (trastorno)
- Von Voss-Cherstvoy syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(72)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Congenital thrombocytopenia
- 1Developmental hereditary disorder
- 1Encephalocele
- 1Genitourinary congenital anomalies
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of nervous system
- 1Hereditary thrombocytopenic disorder
- 1Multiple malformation syndrome with limb defect as major feature
- 2Autosomal hereditary disorder
- 2Cerebral herniation
- 2Congenital anomaly of lower trunk
- 2Congenital anomaly of skull
- 2Congenital disease
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Disorder of nervous system
- 2Disorder of the genitourinary system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Inherited platelet disorder
- 2Multiple system malformation syndrome
- 2Thrombocytopenic disorder
- 3Congenital abnormality of lower limb and pelvic girdle
- 3Congenital abnormality of skull and face bones
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