OMOP Concept 4113738
Congenital ectodermal defect
StandardConditionSNOMED254154003Disorder
Maps from
3
Descendants
164
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Congenital ectodermal defect via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 143985 | Congenital ectodermal defect | Non-standard |
| MeSH | D004476 | Ectodermal Dysplasia | Non-standard |
| Read | PHz..11 | Congenital ectodermal defect | Non-standard |
Synonyms
Alternative names recorded for Congenital ectodermal defect across source vocabularies.
- Congenital ectodermal defect (disorder)
- defecto ectodérmico congénito
- defecto ectodérmico congénito (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(7)Roll up to these when you need a wider cohort.
Narrower concepts
(164)Included automatically when you query with descendants.
- 1Autosomal dominant palmoplantar keratoderma and congenital alopecia
- 1Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome
- 1Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome
- 1Ectodermal dysplasia
- 1Global developmental delay, osteopenia, ectodermal defect syndrome
- 2Ackerman syndrome
- 2Alopecia, contracture, dwarfism, intellectual disability syndrome
- 2Amelo-onycho-hypohidrotic syndrome
- 2Autosomal recessive popliteal pterygium syndrome
- 2Barber-Say syndrome
- 2Blepharocheilodontic syndrome
- 2Cerebellar ataxia and ectodermal dysplasia
- 2Choroidal atrophy and alopecia syndrome
- 2Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
- 2Dyskeratosis congenita
- 2Ectodermal dysplasia and sensorineural deafness syndrome
- 2Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome
- 2Ectodermal dysplasia-ocular malformation syndrome
- 2Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome
- 2Ectodermal dysplasia with hair-tooth defects
- 2Ectodermal dysplasia with nail defect
- 2Ectodermal dysplasia with natal teeth Turnpenny type
- 2Ectodermal dysplasia with sweating defect
- 2Focal facial dermal dysplasia
- 2Hypertrichosis cubiti
Showing 25 of 164. Retrieve the full set via the API.
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