facies - CISMeF

Preferred Label : facies;

MeSH definition : The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed); The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed);

MeSH annotation : do not confuse with FACIAL EXPRESSION, a psychol response; coord IM with assoc dis (IM);

Details

Origin ID

D019066;

UMLS CUI

C0282631;

Automatic exact mappings (from CISMeF team)
- Face [LOINC System]
- Face structure (body structure) [SNOMED CT concept]
- Fanconi anemia, Complementation group C [OMIM Phenotype]
- Fellow of American College of Surgeons [NCIt concept]
- Fetal anticonvulsant syndrome [ORDO Disease]
- face, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Facial appearance (observable entity) [SNOMED CT concept]
Record concept(s)
- facies [MeSH concept]
Related MeSH Supplementary Concept(s)
- Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities [MeSH Supplementary Concept]
- Bainbridge-Ropers syndrome [MeSH Supplementary Concept]
- Burn-Mckeown syndrome [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease, guadalajara neuronal type [MeSH Supplementary Concept]
- Clark-Baraitser syndrome [MeSH Supplementary Concept]
- Coarse facial features [MeSH Supplementary Concept]
- Deafness-Craniofacial syndrome [MeSH Supplementary Concept]
- FACES syndrome [MeSH Supplementary Concept]
- Fryns-Aftimos syndrome [MeSH Supplementary Concept]
- KBG syndrome [MeSH Supplementary Concept]
- Kozlowski-Krajewska syndrome [MeSH Supplementary Concept]
- Larsen-Like syndrome [MeSH Supplementary Concept]
- McDonough syndrome [MeSH Supplementary Concept]
- McPherson clemens syndrome [MeSH Supplementary Concept]
- Mowat-Wilson syndrome [MeSH Supplementary Concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins syndrome [MeSH Supplementary Concept]
- Roifman-Chitayat syndrome [MeSH Supplementary Concept]
- Schaaf-Yang syndrome [MeSH Supplementary Concept]
- Schrander-Stumpel theunissen hulsmans syndrome [MeSH Supplementary Concept]
- Snijders Blok-Campeau syndrome [MeSH Supplementary Concept]
- Temple syndrome [MeSH Supplementary Concept]
- Zechi-Ceide syndrome [MeSH Supplementary Concept]
- al gazali aziz salem syndrome [MeSH Supplementary Concept]
- al gazali hirschsprung syndrome [MeSH Supplementary Concept]
- anonychia-onychodystrophy with hypoplasia or absence of distal phalanges [MeSH Supplementary Concept]
- aortic arch anomaly with peculiar facies and mental retardation [MeSH Supplementary Concept]
- arthrogryposis, distal, with mental retardation and characteristic facies [MeSH Supplementary Concept]
- beemer ertbruggen syndrome [MeSH Supplementary Concept]
- boomerang dysplasia [MeSH Supplementary Concept]
- bowen syndrome [MeSH Supplementary Concept]
- brachytelephalangy characteristic facies kallmann [MeSH Supplementary Concept]
- brunoni syndrome [MeSH Supplementary Concept]
- cardiofaciocutaneous syndrome [MeSH Supplementary Concept]
- cataracts, congenital, with sensorineural deafness, down Syndrome-Like facial appearance, short stature, and mental retardation [MeSH Supplementary Concept]
- chondrodysplasia, Megarbane-Dagher-Melki type [MeSH Supplementary Concept]
- chromosome 10q26 deletion syndrome [MeSH Supplementary Concept]
- chromosome 5p13 duplication syndrome [MeSH Supplementary Concept]
- chromosome Xq28 duplication syndrome [MeSH Supplementary Concept]
- cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss [MeSH Supplementary Concept]
- cortical blindness, retardation, and postaxial polydactyly [MeSH Supplementary Concept]
- craniosynostosis, calcification of basal ganglia, and facial dysmorphism [MeSH Supplementary Concept]
- creases, Infra-Auricular cutaneous, with tall stature and advanced bone age [MeSH Supplementary Concept]
- cree mental retardation syndrome [MeSH Supplementary Concept]
- crisponi syndrome [MeSH Supplementary Concept]
- crumpled helices and small mouth [MeSH Supplementary Concept]
- cubitus valgus with mental retardation and unusual facies [MeSH Supplementary Concept]
- cyprus facial neuromusculoskeletal syndrome [MeSH Supplementary Concept]
- davis lafer syndrome [MeSH Supplementary Concept]
- der kaloustian mcintosh silver syndrome [MeSH Supplementary Concept]
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH Supplementary Concept]
- dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism [MeSH Supplementary Concept]
- disproportionate short stature with ptosis and valvular heart lesions [MeSH Supplementary Concept]
- dubowitz syndrome [MeSH Supplementary Concept]
- ectodermal dysplasia alopecia preaxial polydactyly [MeSH Supplementary Concept]
- ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet [MeSH Supplementary Concept]
- ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features [MeSH Supplementary Concept]
- ectrodactyly cardiopathy dysmorphism [MeSH Supplementary Concept]
- edinburgh malformation syndrome [MeSH Supplementary Concept]
- facial dysmorphism with multiple malformations [MeSH Supplementary Concept]
- facial dysmorphism, selective tooth agenesis, and choroid calcification [MeSH Supplementary Concept]
- faciocardiomelic syndrome [MeSH Supplementary Concept]
- feingold trainer syndrome [MeSH Supplementary Concept]
- fibrochondrogenesis [MeSH Supplementary Concept]
- fibromatosis, gingival, with distinctive facies [MeSH Supplementary Concept]
- filippi syndrome [MeSH Supplementary Concept]
- fryns macrocephaly [MeSH Supplementary Concept]
- fryns syndrome [MeSH Supplementary Concept]
- giacheti syndrome [MeSH Supplementary Concept]
- granddad syndrome [MeSH Supplementary Concept]
- growth deficiency and mental retardation with facial dysmorphism [MeSH Supplementary Concept]
- growth mental deficiency syndrome of myhre [MeSH Supplementary Concept]
- growth retardation, developmental delay, coarse facies, and early death [MeSH Supplementary Concept]
- hadziselimovic syndrome [MeSH Supplementary Concept]
- haspeslagh fryns muelenaere syndrome [MeSH Supplementary Concept]
- holoprosencephaly 10 [MeSH Supplementary Concept]
- hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation [MeSH Supplementary Concept]
- hydrops fetalis, nonimmune, with gracile bones and dysmorphic features [MeSH Supplementary Concept]
- hypotonia, seizures, and precocious puberty [MeSH Supplementary Concept]
- iris dysplasia hypertelorism deafness [MeSH Supplementary Concept]
- irons bhan syndrome [MeSH Supplementary Concept]
- kahrizi syndrome [MeSH Supplementary Concept]
- kaufman oculocerebrofacial syndrome [MeSH Supplementary Concept]
- kozlowski rafinski klicharska syndrome [MeSH Supplementary Concept]
- leri pleonosteosis [MeSH Supplementary Concept]
- lichtenstein syndrome [MeSH Supplementary Concept]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH Supplementary Concept]
- lymphedema, microcephaly and chorioretinopathy syndrome [MeSH Supplementary Concept]
- macrocephaly autism syndrome [MeSH Supplementary Concept]
- macrocephaly with multiple epiphyseal dysplasia and distinctive facies [MeSH Supplementary Concept]
- malocclusion and short stature [MeSH Supplementary Concept]
- marfanoid mental retardation syndrome, autosomal [MeSH Supplementary Concept]
- mental retardation, buenos aires type [MeSH Supplementary Concept]
- mental retardation, microcephaly, epilepsy, and coarse face [MeSH Supplementary Concept]
- mental retardation, short stature, facial anomalies, and joint dislocations [MeSH Supplementary Concept]
- metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [MeSH Supplementary Concept]
- microcephaly cervical spine fusion anomalies [MeSH Supplementary Concept]
- microcephaly deafness syndrome [MeSH Supplementary Concept]
- microcephaly with chemotactic defect and transient hypogammaglobulinemia [MeSH Supplementary Concept]
- microcephaly, growth retardation, cataract, hearing loss, and unusual appearance [MeSH Supplementary Concept]
- microcephaly, severe, with skeletal anomalies including posterior Rib-Gap defects [MeSH Supplementary Concept]
- micromelic dysplasia, congenital, with dislocation of radius [MeSH Supplementary Concept]
- multiple pterygium syndrome, X-Linked [MeSH Supplementary Concept]
- nicolaides baraitser syndrome [MeSH Supplementary Concept]
- night blindness skeletal anomalies unusual facies [MeSH Supplementary Concept]
- omodysplasia 2 [MeSH Supplementary Concept]
- oroacral syndrome, Verloes-Koulischer type [MeSH Supplementary Concept]
- osteolysis syndrome recessive [MeSH Supplementary Concept]
- otoonychoperoneal syndrome [MeSH Supplementary Concept]
- palant cleft palate syndrome [MeSH Supplementary Concept]
- partington anderson syndrome [MeSH Supplementary Concept]
- pfeiffer palm teller syndrome [MeSH Supplementary Concept]
- pierre robin sequence with facial and digital anomalies [MeSH Supplementary Concept]
- pituitary hormone deficiency, combined, 1 [MeSH Supplementary Concept]
- plantar lipomatosis, unusual facies, and developmental delay [MeSH Supplementary Concept]
- progeroid facial appearance with hand anomalies [MeSH Supplementary Concept]
- radioulnar synostosis retinal pigment abnormalities [MeSH Supplementary Concept]
- ramos arroyo clark syndrome [MeSH Supplementary Concept]
- renal and mullerian duct hypoplasia [MeSH Supplementary Concept]
- renal dysplasia - limb defects syndrome [MeSH Supplementary Concept]
- renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies [MeSH Supplementary Concept]
- robin sequence with distinctive facial appearance and brachydactyly [MeSH Supplementary Concept]
- rudiger syndrome [MeSH Supplementary Concept]
- ruvalcaba syndrome [MeSH Supplementary Concept]
- seckel syndrome 1 [MeSH Supplementary Concept]
- seckel syndrome 3 [MeSH Supplementary Concept]
- short stature, facial dysmorphism, severe brachydactyly, and syndactyly [MeSH Supplementary Concept]
- shprintzen omphalocele syndrome [MeSH Supplementary Concept]
- spastic paraplegia 23 [MeSH Supplementary Concept]
- speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease [MeSH Supplementary Concept]
- spinocerebellar ataxia with dysmorphism [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with characteristic facies [MeSH Supplementary Concept]
- thakker donnai syndrome [MeSH Supplementary Concept]
- thomas jewett raines syndrome [MeSH Supplementary Concept]
- thrombocytopenia robin sequence [MeSH Supplementary Concept]
- trichohepatoenteric syndrome [MeSH Supplementary Concept]
- trichorhinophalangeal syndrome, type III [MeSH Supplementary Concept]
- urofacial syndrome [MeSH Supplementary Concept]
- uruguay faciocardiomusculoskeletal syndrome [MeSH Supplementary Concept]
- white forelock with malformations [MeSH Supplementary Concept]
- winter harding hyde syndrome [MeSH Supplementary Concept]
- young simpson syndrome [MeSH Supplementary Concept]
See also
- facial asymmetry [MeSH Descriptor]
See also (suggested by CISMeF)
- face [MeSH Descriptor]
Semantic type(s)
- Organism Attribute [UMLS semantic type]
UMLS correspondences (same concept)
- Facial appearance (observable entity) [SNOMED CT concept]

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