OMOP Concept 4274970
Multiple malformation syndrome with facial defects as major feature
StandardConditionSNOMED65094009Disorder
Maps from
16
Descendants
563
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
16 source codes normalize to Multiple malformation syndrome with facial defects as major feature via the OMOP "Maps to" relationship.
Synonyms
Alternative names recorded for Multiple malformation syndrome with facial defects as major feature across source vocabularies.
- Multiple malformation syndrome with facial defects as major feature (disorder)
- síndrome de malformaciones múltiples con anomalías faciales como característica principal
- síndrome de malformaciones múltiples con anomalías faciales como característica principal (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Congenital anomaly of face
- 1Multiple system malformation syndrome
- 2Congenital anomaly of head
- 2Congenital malformation syndrome
- 2Disorder of face
- 3Congenital malformation
- 3Disorder of head
- 3Finding of face
- 4Congenital disease
- 4Developmental disorder
- 4Disease
- 4Finding of head region
- 4Head finding
- 5Clinical finding
- 5Fetal and/or neonatal disorder
Narrower concepts
(563)Included automatically when you query with descendants.
- 111p15.4 microduplication syndrome
- 111q22.2q22.3 microdeletion syndrome
- 113q12.3 microdeletion syndrome
- 114q11.2 microdeletion syndrome
- 114q24.1q24.3 microdeletion syndrome
- 115q overgrowth syndrome
- 116p11.2p12.2 microdeletion syndrome
- 11p35.2 microdeletion syndrome
- 121q22.11q22.12 microdeletion syndrome
- 12p13.2 microdeletion syndrome
- 12p15p16.1 microdeletion syndrome
- 12p21 microdeletion syndrome
- 12p21 microdeletion syndrome without cystinuria
- 13C syndrome
- 15p13 microduplication syndrome
- 18q22.1 microdeletion syndrome
- 18q24.3 microdeletion syndrome
- 19q21.13 microdeletion syndrome
- 19q31.1q31.3 microdeletion syndrome
- 1Ablepharon macrostomia syndrome
- 1Acromelic frontonasal dysplasia
- 1ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
- 1Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome
- 1Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome
- 1Agnathia, holoprosencephaly, situs inversus syndrome
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