facio-auriculo-vertebral spectrum - CISMeF

" /> facio-auriculo-vertebral spectrum - CISMeF

CISMeF

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Facio-auriculo-vertebral spectrumSNOMED Notion

Preferred Label : facio-auriculo-vertebral spectrum;

Details

Origin ID

D4-01301;

UMLS CUI

C0265240;

Automatic exact mappings (from CISMeF team)
- Craniofacial microsomia 1 [OMIM Phenotype]
- Goldenhar syndrome [ICD-11 More detail]
- Hemifacial microsomia [PASCAL descriptor]
- Hemifacial microsomia [ICD-11 More detail]
- Hemifacial microsomia (disorder) [SNOMED CT concept]
- Otomandibular syndrome [ORDO Disease]
- facial asymmetry [MeSH Descriptor]
- facial asymmetry [MeSH concept]
Currated CISMeF NLP mapping
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- goldenhar syndrome [MeSH concept]
- goldenhar syndrome [MeSH Descriptor]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Branchial arch or oral-acral syndrome [ORDO Disease]
- Bulbar conjunctival dermoid or conjunctival dermolipoma [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Lens shape anomaly [ORDO Disease]
- Oculo-auriculo-vertebral spectrum [ORDO Disease]
- Other syndrome with lissencephaly as a major feature [ORDO Disease]
- Pierre Robin syndrome associated with branchial archs anomalies [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndrome with a central nervous system malformation as a major feature [ORDO Disease]
- Syndromic corneal dystrophy [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic eyelid coloboma [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial microsomia (disorder) [SNOMED CT concept]
- Craniofacial microsomia 1 [OMIM Phenotype]
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- First and second branchial arch syndrome (disorder) [SNOMED CT concept]
- First arch syndrome (disorder) [SNOMED CT concept]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- Otomandibular dysostosis (disorder) [SNOMED CT concept]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]

Keyword's position in hierarchy(ies) :

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24/05/2025

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