OMOP Concept 36713652
Aase Smith type 1 syndrome
StandardConditionSNOMED718576001Disorder
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 Aase Smith type 1 syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C535332 | Aase Smith syndrome | Non-standard |
| Nebraska Lexicon | 718576001 | Hydrocephalus with cleft palate and joint contracture syndrome | Non-standard |
Synonyms
Alternative names recorded for Aase Smith type 1 syndrome across source vocabularies.
- Aase Smith I syndrome
- Hydrocephalus with cleft palate and joint contracture syndrome
- Hydrocephalus with cleft palate and joint contracture syndrome (disorder)
- síndrome de hidrocefalia con fisura de paladar y contractura articular
- síndrome de hidrocefalia con fisura de paladar y contractura articular (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(83)Roll up to these when you need a wider cohort.
- 1Autosomal dominant hereditary disorder
- 1Cleft palate
- 1Congenital abnormality of skull and face bones
- 1Dandy-Walker syndrome
- 1Extrapyramidal disease
- 1Hereditary disorder of nervous system
- 1Inherited arthrogryposis
- 1Multiple malformation syndrome with facial-limb defects as major feature
- 2Arthrogryposis
- 2Autosomal hereditary disorder
- 2Congenital anomaly of head
- 2Congenital anomaly of limb
- 2Congenital anomaly of palate
- 2Congenital anomaly of skeletal bone
- 2Congenital cerebellar hypoplasia
- 2Congenital hydrocephalus
- 2Cystic malformation of posterior fossa
- 2Developmental hereditary disorder
- 2Disorder of brain
- 2Disorder of nervous system
- 2Hereditary disorder by system
- 2Hereditary disorder of musculoskeletal system
- 2Movement disorder
- 2Multiple malformation syndrome with facial defects as major feature
- 2Multiple malformation syndrome with limb defect as major feature
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