mobius syndrome

Preferred Label : mobius syndrome;

MeSH definition : A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020);

MeSH synonym : congenital oculofacial paralysis, moebius; mobius syndromes; moebius syndrome; moebius syndromes; moebius congenital oculofacial paralysis; Congenital Ophthalmoplegia and Facial Paresis; moebius sequence; möbius sequence; moebius spectrum;

CISMeF synonym : Mobius; Moebius; syndromes, moebius; syndromes, mobius; syndrome, mobius; syndrome, moebius; mobius's syndrome;

DeCS synonym : M bius Sequence;

Wikipedia link : https://en.wikipedia.org/wiki/Moebius syndrome;

Details

Origin ID

D020331;

UMLS CUI

C0221060;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital facial diplegia [HPO term]
- Congenital facial diplegia [MedDRA LLT]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
DO Cross reference
- Mobius syndrome [DO Concept]
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]
ORDO relation(s)
- Moebius syndrome [ORDO Disease]
Record concept(s)
- mobius syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- congenital facial diplegia [MeSH Supplementary Concept]
- moebius axonal neuropathy hypogonadism [MeSH Supplementary Concept]
- moebius syndrome 1 [MeSH Supplementary Concept]
- myopathy, congenital nonprogressive with moebius and robin sequences [MeSH Supplementary Concept]
See also
- facial paralysis [MeSH Descriptor]
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]
- oromandibular-limb hypogenesis spectrum [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Moebius II syndrome [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]

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