OMOP Concept 4051331
Multiple malformation syndrome with facial-limb defects as major feature
StandardConditionSNOMED23359005Disorder
Maps from
1
Descendants
167
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Multiple malformation syndrome with facial-limb defects as major feature via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 133716 | Multiple Malformation Syndrome with Facial-Limb Defects as Major Feature | Non-standard |
Synonyms
Alternative names recorded for Multiple malformation syndrome with facial-limb defects as major feature across source vocabularies.
- Multiple malformation syndrome with facial-limb defects as major feature (disorder)
- síndrome de malformación múltiple con anomalías facial y de miembros como característica principal
- síndrome de malformación múltiple con anomalías facial y de miembros como característica principal (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(20)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of limb
- 1Multiple malformation syndrome with facial defects as major feature
- 1Multiple malformation syndrome with limb defect as major feature
- 2Congenital anomaly of face
- 2Congenital malformation
- 2Disorder of limb
- 2Multiple system malformation syndrome
- 3Congenital anomaly of head
- 3Congenital disease
- 3Congenital malformation syndrome
- 3Developmental disorder
- 3Disease
- 3Disorder of face
- 3Finding of limb structure
- 4Clinical finding
- 4Disorder of head
- 4Fetal and/or neonatal disorder
- 4Finding of face
- 5Finding of head region
- 5Head finding
Narrower concepts
(167)Included automatically when you query with descendants.
- 116p12.1p12.3 triplication syndrome
- 120q11.2 microdeletion syndrome
- 14q25 proximal deletion syndrome
- 1Aase Smith type 1 syndrome
- 1Acrocallosal syndrome
- 1Acrocephalopolydactyly
- 1Acrocraniofacial dysostosis
- 1Acrofacial dysostosis Catania type
- 1Acrofacial dysostosis Kennedy Teebi type
- 1Acrofacial dysostosis Palagonia type
- 1Acrofacial dysostosis Rodriguez type
- 1Acrofrontofacionasal dysostosis
- 1Acrofrontofacionasal dysostosis type 2
- 1Acromegaloid facial appearance syndrome
- 1Acro-oto-ocular syndrome
- 1Acrorenal mandibular syndrome
- 1Adducted thumbs and arthrogryposis syndrome Christian type
- 1Alkuraya Kucinskas syndrome
- 1Alopecia, contracture, dwarfism, intellectual disability syndrome
- 1Arachnodactyly and intellectual disability with facial dysmorphism syndrome
- 1Arachnodactyly with abnormal ossification and intellectual disability syndrome
- 1Arthrogryposis and ectodermal dysplasia syndrome
- 1Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome
- 1Autosomal recessive distal osteolysis syndrome
- 1Autosomal recessive facio-digito-genital syndrome
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