craniofacial abnormalities

Preferred Label : craniofacial abnormalities;

MeSH definition : Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.;

MeSH synonym : craniofacial abnormality; abnormalities, craniofacial; abnormality, craniofacial;

MeSH annotation : GEN or unspecified; prefer specifics; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: CRANIOFACIAL ABNORM; general or unspecified; prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Craniofacial abnormality;

Details

Origin ID

D019465;

UMLS CUI

C0376634;

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)
- Craniofacial deformity [MedDRA Preferred Term]
- brain malformations [MedlinePlus Topic]
- craniofacial abnormalities [MedlinePlus Topic]
Currated CISMeF NLP mapping
- craniofacial abnormality [Disease (Nov.)]
Mapping VCM hiérarchique
- deformity [VCM modifier]
MedlinePlus topic(s)
- brain malformations [MedlinePlus Topic]
- facial injuries and disorders [MedlinePlus Topic]
Record concept(s)
- craniofacial abnormalities [MeSH concept]
Related MeSH Supplementary Concept(s)
- 3C syndrome [MeSH Supplementary Concept]
- B-Cell immunodeficiency, distal limb anomalies, and urogenital malformations [MeSH Supplementary Concept]
- Birk-Barel mental retardation dysmorphism syndrome [MeSH Supplementary Concept]
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH Supplementary Concept]
- CODAS syndrome [MeSH Supplementary Concept]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- Fraser-Like syndrome [MeSH Supplementary Concept]
- Fryns-Aftimos syndrome [MeSH Supplementary Concept]
- Goldberg-Shprintzen megacolon syndrome [MeSH Supplementary Concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- LIG4 syndrome [MeSH Supplementary Concept]
- Marshall-Smith syndrome [MeSH Supplementary Concept]
- Midline brainstem cleft [MeSH Supplementary Concept]
- Morillo-Cucci passarge syndrome [MeSH Supplementary Concept]
- NF1 microdeletion syndrome [MeSH Supplementary Concept]
- Oto-Palato-digital syndrome type 1 [MeSH Supplementary Concept]
- Otofacioosseous-Gonadal syndrome [MeSH Supplementary Concept]
- Robinow Syndrome [MeSH Supplementary Concept]
- SCARF syndrome [MeSH Supplementary Concept]
- Schilbach-Rott syndrome ocular hypotelorism, submucosal cleft palate, and hypospadias [MeSH Supplementary Concept]
- Schinzel-Giedion syndrome [MeSH Supplementary Concept]
- Schwartz-Lelek syndrome [MeSH Supplementary Concept]
- Weaver-Like syndrome [MeSH Supplementary Concept]
- abidi X-linked mental retardation syndrome [MeSH Supplementary Concept]
- alopecia, epilepsy, pyorrhea, mental subnormality [MeSH Supplementary Concept]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary Concept]
- arthrogryposis multiplex congenita whistling face [MeSH Supplementary Concept]
- arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies [MeSH Supplementary Concept]
- arthrogryposis-like hand anomaly and sensorineural deafness [MeSH Supplementary Concept]
- arthropathy, erosive [MeSH Supplementary Concept]
- asymmetric short stature syndrome [MeSH Supplementary Concept]
- baker vinters syndrome [MeSH Supplementary Concept]
- blepharochalasis and double lip [MeSH Supplementary Concept]
- blepharophimosis with facial and genital anomalies and mental retardation [MeSH Supplementary Concept]
- brachymesomelia renal syndrome [MeSH Supplementary Concept]
- brachytelephalangy characteristic facies kallmann [MeSH Supplementary Concept]
- branchial cleft anomalies [MeSH Supplementary Concept]
- calvarial hyperostosis [MeSH Supplementary Concept]
- camptodactyly syndrome guadalajara type 2 [MeSH Supplementary Concept]
- cerebrofrontofacial syndrome [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 2 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 4 [MeSH Supplementary Concept]
- cerebrooculonasal syndrome [MeSH Supplementary Concept]
- chromosome 18 pericentric inversion [MeSH Supplementary Concept]
- chromosome 2p16.1-P15 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q31.2 deletion syndrome [MeSH Supplementary Concept]
- chromosome Xq28 duplication syndrome [MeSH Supplementary Concept]
- cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 2 [MeSH Supplementary Concept]
- congenital cataracts, facial dysmorphism, and neuropathy [MeSH Supplementary Concept]
- corpus callosum, agenesis of, with facial anomalies and robin sequence [MeSH Supplementary Concept]
- cranioacrofacial syndrome [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia [MeSH Supplementary Concept]
- craniodiaphyseal dysplasia, autosomal dominant [MeSH Supplementary Concept]
- craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation [MeSH Supplementary Concept]
- craniofacial anomalies, empty sella turcica, corneal endothelial changes, and abnormal retinal and auditory bipolar cells [MeSH Supplementary Concept]
- craniofacial deafness hand syndrome [MeSH Supplementary Concept]
- craniofacial dyssynostosis [MeSH Supplementary Concept]
- craniofacioskeletal syndrome [MeSH Supplementary Concept]
- craniofrontonasal dysplasia [MeSH Supplementary Concept]
- craniolenticulosutural dysplasia [MeSH Supplementary Concept]
- craniomicromelic syndrome [MeSH Supplementary Concept]
- craniorhiny [MeSH Supplementary Concept]
- curly hair-acral keratoderma-caries syndrome [MeSH Supplementary Concept]
- desbuquois syndrome [MeSH Supplementary Concept]
- diaphanospondylodysostosis [MeSH Supplementary Concept]
- digitorenocerebral syndrome [MeSH Supplementary Concept]
- ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism [MeSH Supplementary Concept]
- exchondrosis of pinna, posterior [MeSH Supplementary Concept]
- exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis [MeSH Supplementary Concept]
- facial dysmorphism with multiple malformations [MeSH Supplementary Concept]
- facial dysmorphism, cleft palate, hearing loss, and camptodactyly [MeSH Supplementary Concept]
- faciocardiomelic syndrome [MeSH Supplementary Concept]
- fg syndrome 5 [MeSH Supplementary Concept]
- floating-harbor syndrome [MeSH Supplementary Concept]
- forebrain defects [MeSH Supplementary Concept]
- fountain syndrome [MeSH Supplementary Concept]
- fragile site 16p12 [MeSH Supplementary Concept]
- fronto-facio-nasal dysplasia [MeSH Supplementary Concept]
- frontonasal dysplasia [MeSH Supplementary Concept]
- frontoocular syndrome [MeSH Supplementary Concept]
- frontootopalatodigital osteodysplasia [MeSH Supplementary Concept]
- game friedman paradice syndrome [MeSH Supplementary Concept]
- genitopatellar syndrome [MeSH Supplementary Concept]
- gomez lopez hernandez syndrome [MeSH Supplementary Concept]
- gracile bone dysplasia [MeSH Supplementary Concept]
- grant syndrome [MeSH Supplementary Concept]
- hall riggs mental retardation syndrome [MeSH Supplementary Concept]
- hanhart syndrome [MeSH Supplementary Concept]
- harrod doman keele syndrome [MeSH Supplementary Concept]
- haspeslagh fryns muelenaere syndrome [MeSH Supplementary Concept]
- hecht scott syndrome [MeSH Supplementary Concept]
- hennekam lymphangiectasia lymphedema syndrome [MeSH Supplementary Concept]
- humeroradial synostosis with craniofacial anomalies [MeSH Supplementary Concept]
- ichthyosis cheek eyebrow syndrome [MeSH Supplementary Concept]
- jequier kozlowski skeletal dysplasia [MeSH Supplementary Concept]
- jones hersh yusk syndrome [MeSH Supplementary Concept]
- kapur toriello syndrome [MeSH Supplementary Concept]
- kleefstra syndrome [MeSH Supplementary Concept]
- kosztolanyi syndrome [MeSH Supplementary Concept]
- larsen syndrome, dominant type [MeSH Supplementary Concept]
- leichtman wood rohn syndrome [MeSH Supplementary Concept]
- lujan fryns syndrome [MeSH Supplementary Concept]
- malpuech facial clefting syndrome [MeSH Supplementary Concept]
- mandibuloacral dysplasia with type B lipodystrophy [MeSH Supplementary Concept]
- mandibulofacial dysostosis syndrome, bauru type [MeSH Supplementary Concept]
- mandibulofacial dysostosis with macroblepharon and macrostomia [MeSH Supplementary Concept]
- marshall syndrome [MeSH Supplementary Concept]
- mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature [MeSH Supplementary Concept]
- mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism [MeSH Supplementary Concept]
- microcephaly, facial abnormalities, micromelia, and mental retardation [MeSH Supplementary Concept]
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH Supplementary Concept]
- midface hypoplasia, obesity, developmental delay, and neonatal hypotonia [MeSH Supplementary Concept]
- myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency [MeSH Supplementary Concept]
- myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay [MeSH Supplementary Concept]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]
- neurofaciodigitorenal syndrome [MeSH Supplementary Concept]
- oculoauriculofrontonasal syndrome [MeSH Supplementary Concept]
- oculocerebral hypopigmentation syndrome type preus [MeSH Supplementary Concept]
- oculodentodigital dysplasia [MeSH Supplementary Concept]
- oculodentodigital dysplasia, autosomal recessive [MeSH Supplementary Concept]
- oculootofacial dysplasia [MeSH Supplementary Concept]
- orbital margin, hypoplasia of [MeSH Supplementary Concept]
- oto-palato-digital syndrome, type 2 [MeSH Supplementary Concept]
- otocephaly [MeSH Supplementary Concept]
- otopalatodigital spectrum disorder [MeSH Supplementary Concept]
- pallister W syndrome [MeSH Supplementary Concept]
- pashayan syndrome [MeSH Supplementary Concept]
- pointer syndrome [MeSH Supplementary Concept]
- potato nose [MeSH Supplementary Concept]
- preauricular fistulae, congenital [MeSH Supplementary Concept]
- prieto X-linked mental retardation syndrome [MeSH Supplementary Concept]
- pseudoaminopterin syndrome [MeSH Supplementary Concept]
- reardon hall slaney syndrome [MeSH Supplementary Concept]
- riddle syndrome [MeSH Supplementary Concept]
- roberts syndrome [MeSH Supplementary Concept]
- rommen mueller sybert syndrome [MeSH Supplementary Concept]
- rozin hertz goodman syndrome [MeSH Supplementary Concept]
- say meyer syndrome [MeSH Supplementary Concept]
- schaefer stein oshman syndrome [MeSH Supplementary Concept]
- scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities [MeSH Supplementary Concept]
- seaver cassidy syndrome [MeSH Supplementary Concept]
- seckel like syndrome type buebel [MeSH Supplementary Concept]
- sener syndrome [MeSH Supplementary Concept]
- short Stature-Obesity syndrome [MeSH Supplementary Concept]
- short stature and facioauriculothoracic malformations [MeSH Supplementary Concept]
- simosa cranio facial syndrome [MeSH Supplementary Concept]
- sonoda syndrome [MeSH Supplementary Concept]
- splenogonadal fusion limb defects micrognatia [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, aggrecan type [MeSH Supplementary Concept]
- spondyloocular syndrome, autosomal recessive [MeSH Supplementary Concept]
- stickler syndrome, autosomal recessive, COL9A1-Related [MeSH Supplementary Concept]
- teebi shaltout syndrome [MeSH Supplementary Concept]
- telecanthus [MeSH Supplementary Concept]
- temtamy syndrome [MeSH Supplementary Concept]
- ter haar syndrome [MeSH Supplementary Concept]
- tetrasomy X [MeSH Supplementary Concept]
- tollner horst manzke syndrome [MeSH Supplementary Concept]
- tricho-dento-osseous syndrome [MeSH Supplementary Concept]
- urioste Martinez-Frias syndrome [MeSH Supplementary Concept]
- van Bogaert-Hozay syndrome [MeSH Supplementary Concept]
- van buchem disease type 2 [MeSH Supplementary Concept]
- van maldergem wetzburger verloes syndrome [MeSH Supplementary Concept]
- vertebral body fusion overgrowth [MeSH Supplementary Concept]
- viljoen kallis voges syndrome [MeSH Supplementary Concept]
- weaver syndrome [MeSH Supplementary Concept]
- wiedemann grosse dibbern syndrome [MeSH Supplementary Concept]
- winter shortland temple syndrome [MeSH Supplementary Concept]
- zimmerman laband syndrome [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- facial bones [MeSH Descriptor]
- skull [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- craniofacial abnormalities [MedlinePlus Topic]
- craniofacial abnormality [Disease (Nov.)]
Validated automatic mappings to BTNT
- Abnormal facial shape [HPO term]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients