OMOP Concept 37116379
Stimmler syndrome
StandardConditionSNOMED733072002Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2017
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
2 source codes normalize to Stimmler syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C565968 | Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus | Non-standard |
| Nebraska Lexicon | 733072002 | Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome | Non-standard |
Synonyms
Alternative names recorded for Stimmler syndrome across source vocabularies.
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
- síndrome de alaninuria, microcefalia, enanismo, hipoplasia del esmalte dental y diabetes mellitus
- síndrome de alaninuria, microcefalia, enanismo, hipoplasia del esmalte dental y diabetes mellitus (trastorno)
- síndrome de Stimmler
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(78)Roll up to these when you need a wider cohort.
- 1Amelogenesis imperfecta
- 1Autosomal recessive hereditary disorder
- 1Congenital microcephaly
- 1Diabetes mellitus
- 1Disorder of amino acid and organic acid metabolism
- 1Enamel hypoplasia
- 1Hereditary disorder of endocrine system
- 1Intellectual disability
- 1Multiple malformation syndrome with facial defects as major feature
- 1Short stature disorder
- 2Autosomal hereditary disorder
- 2Behavior finding
- 2Congenital anomaly of face
- 2Congenital anomaly of head
- 2Congenital anomaly of tooth
- 2Developmental hereditary disorder
- 2Disorder of amino acid metabolism
- 2Disorder of endocrine system
- 2Disorder of glucose metabolism
- 2Disorder of hard tissues of teeth
- 2Disorder of stature
- 2Hereditary disorder by system
- 2Hereditary disorder of tooth
- 2Impaired cognition
- 2Intellectual ability - finding
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