OMOP Concept 4301770
Amelogenesis imperfecta
StandardConditionSNOMED78494001Disorder
Maps from
7
Descendants
23
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Amelogenesis imperfecta via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 148990 | Amelogenesis imperfecta | Non-standard |
| HPO | HP_0000705 | Amelogenesis imperfecta | Non-standard |
| KCD7 | K00.50 | Amelogenesis imperfecta | Non-standard |
| MeSH | D000567 | Amelogenesis Imperfecta | Non-standard |
| Nebraska Lexicon | 78494001 | Congenital enamel hypoplasia | Non-standard |
| OXMIS | 5205A | AMELOGENESIS IMPERFECTA | Non-standard |
| Read | J005000 | Amelogenesis imperfecta | Non-standard |
Synonyms
Alternative names recorded for Amelogenesis imperfecta across source vocabularies.
- AI - Amelogenesis imperfecta
- amelogénesis imperfecta
- Amelogenesis imperfecta (disorder)
- amelogénesis imperfecta (trastorno)
- Congenital enamel hypoplasia
- hipoplasia congénita del esmalte
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(41)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of tooth
- 1Developmental hereditary disorder
- 1Disorder of hard tissues of teeth
- 1Hereditary disorder of tooth
- 2Congenital abnormality of oral cavity
- 2Congenital anomaly of digestive organ
- 2Congenital anomaly of jaw
- 2Developmental disorder
- 2Digestive system hereditary disorder
- 2Hereditary disease
- 2Malformation of tooth
- 2Tooth disorder
- 3Congenital anomaly of digestive system
- 3Congenital anomaly of head
- 3Congenital anomaly of mouth
- 3Disease
- 3Disorder of digestive organ
- 3Disorder of digestive system
- 3Disorder of jaw
- 3Disorder of teeth AND/OR supporting structures
- 3Disorder of tooth development
- 3Genetic disease
- 3Hereditary disorder by system
- 3Oral cavity finding
- 3Tooth finding
Narrower concepts
(23)Included automatically when you query with descendants.
- 1Agenesis of enamel
- 1Amelogenesis imperfecta and gingival hyperplasia syndrome
- 1Amelogenesis imperfecta co-occurrent with cone rod dystrophy
- 1Amelogenesis imperfecta, hypocalcification type
- 1Amelogenesis imperfecta, hypomaturation type
- 1Amelogenesis imperfecta, hypoplastic type
- 1Ectodermal dysplasia, hyperhidrosis, cutaneous syndactyly syndrome
- 1Enamel-renal syndrome
- 1Kohlschutter's syndrome
- 1Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
- 1Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
- 1Stimmler syndrome
- 1Trichodysplasia with amelogenesis imperfecta syndrome
- 1Verloes Bourguignon syndrome
- 2Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism
- 2Amelogenesis imperfecta - hypomaturation - recessive pigmented
- 2Amelogenesis imperfecta - hypomaturation - snow capped teeth
- 2Amelogenesis imperfecta - hypoplastic autosomal dominant - local
- 2Amelogenesis imperfecta - hypoplastic autosomal dominant - rough
- 2Amelogenesis imperfecta - hypoplastic autosomal dominant - smooth
- 2Amelogenesis imperfecta, hypoplastic type with microdontia
- 2Amelogenesis imperfecta, pigmented hypomaturation type
- 2Amelogenesis imperfecta - recessive - rough
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