oromandibular-limb hypogenesis spectrum - CISMeF

" /> oromandibular-limb hypogenesis spectrum - CISMeF

CISMeF

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Oromandibular-limb hypogenesis spectrumSNOMED Notion

Preferred Label : oromandibular-limb hypogenesis spectrum;

Details

Origin ID

D4-01305;

UMLS CUI

C0221060;

Automatic exact mappings (from CISMeF team)
- Aglossia-adactyly syndrome (disorder) [SNOMED CT concept]
- Congenital facial diplegia [MedDRA LLT]
- Congenital facial diplegia [HPO term]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Hypoglossia-hypodactyly syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Charlie M syndrome [ORDO Disease]
- Congenital facial diplegia [MeSH concept]
- Mobius Syndrome [NCIt concept]
- Mobius syndrome [DO Concept]
- Moebius syndrome [PASCAL descriptor]
- Moebius syndrome [Disease (Nov.)]
- Moebius syndrome [ICD-11 More detail]
- Moebius syndrome [ORDO Disease]
- Moebius syndrome [OMIM Phenotype]
- Moebius syndrome (disorder) [SNOMED CT concept]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- congenital facial diplegia [MeSH Supplementary Concept]
- mobius syndrome [MeSH Descriptor]
- mobius syndrome [MeSH concept]
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]
- Cranial nerve and nuclear aplasia [ORDO Disease]
- Genetic branchial arch or oral-acral syndrome [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [ORDO Disease]
- Nuclear oculomotor paralysis [ORDO Disease]
- Paralytic facial malformation [ORDO Disease]
- Sucking/swallowing disorder associated with an identified syndrome [ORDO Disease]
- Syndrome with a central nervous system malformation as a major feature [ORDO Disease]
- Syndromic disorder with strabismus [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charlie M syndrome [ORDO Disease]
- Mobius Syndrome [NCIt concept]
- Mobius syndrome [DO Concept]
- Mobius syndrome [MedDRA LLT]
- Moebius syndrome [OMIM Phenotype]
- Moebius syndrome [Disease (Nov.)]
- Moebius syndrome [MedDRA LLT]
- Moebius syndrome (disorder) [SNOMED CT concept]
- Oculofacial paralysis [MedDRA Preferred Term]
- Oromandibular-limb hypogenesis spectrum (disorder) [SNOMED CT concept]
- mobius syndrome [MeSH Descriptor]
- mobius syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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27/04/2025

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