OMOP Concept 36676423
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
StandardConditionSNOMED773300008Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535783 | Spondyloepimetaphyseal dysplasia with hypotrichosis | Non-standard |
Synonyms
Alternative names recorded for Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome across source vocabularies.
- síndrome de displasia espondiloepimetafisaria e hipotricosis
- síndrome de displasia espondiloepimetafisaria e hipotricosis (trastorno)
- síndrome de Whyte
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (disorder)
- Whyte syndrome
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(64)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Congenital hypotrichia
- 1Developmental hereditary disorder
- 1Hereditary disorder of musculoskeletal system
- 1Hereditary disorder of the integument
- 1Rhizomelic dysplasia
- 1Spondyloepimetaphyseal disorder
- 2Autosomal hereditary disorder
- 2Congenital anomaly of hair
- 2Congenital anomaly of skeletal bone
- 2Congenital dysplasia of limb
- 2Congenital hypoplasia of skin
- 2Congenital malformation syndrome
- 2Developmental disorder
- 2Disorder of integument
- 2Disorder of musculoskeletal system
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hypotrichosis
- 2Lesion of bone
- 2Metaphyseal chondrodysplasia
- 2Skeletal dysplasia
- 2Structural abnormality of bone of limb
- 3Congenital anomaly of limb
- 3Congenital anomaly of musculoskeletal system
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