32003007: Congenital anomaly of face bones (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones

\Musculoskeletal finding\Bone finding\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of facial bone\Congenital anomaly of face bones
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of face bones

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of face bones	Is a	Disorder of facial bone	true	Inferred relationship	Some
Congenital anomaly of face bones	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Congenital anomaly of face bones	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Congenital anomaly of face bones	Is a	Congenital abnormality of skull and face bones	false	Inferred relationship	Some
Congenital anomaly of face bones	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of face bones	Finding site	struktur af bruskvæv	false	Inferred relationship	Some
Congenital anomaly of face bones	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Congenital anomaly of face bones	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of face bones	Is a	Congenital anomaly of face (disorder)	true	Inferred relationship	Some
Congenital anomaly of face bones	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of face bones	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital anomaly of face bones	Is a	Congenital anomaly of skeletal bone	false	Inferred relationship	Some
Congenital anomaly of face bones	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of face bones	Finding site	Bone structure of face	false	Inferred relationship	Some	1
Congenital anomaly of face bones	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of face bones	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of face bones	Is a	Congenital abnormality of skull and face bones	true	Inferred relationship	Some
Congenital anomaly of face bones	Finding site	Bone structure of face	false	Inferred relationship	Some	2
Congenital anomaly of face bones	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of face bones	Finding site	Bone structure of face	true	Inferred relationship	Some	1
Congenital anomaly of face bones	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of face bones	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anterior perimaxillary faciosynostosis	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Complete perimaxillary faciosynostosis	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Posterior perimaxillary faciosynostosis	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Microgenia	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Hemifacial microsomia	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Craniofacial microsomia	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Bilateral craniofacial microsomia	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of maxilla (disorder)	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of mandible	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Potter's facies	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital absence of jaw	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal fusion of vomer	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal fusion of zygomatic bone	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal shape of vomer	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal shape of zygomatic bone	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of hyoid bone	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of lacrimal bone	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of nasal bone	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of palatine bone	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of premaxilla	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of vomer	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital anomaly of zygomatic bone	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Whistling face syndrome	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Frontoparietal kraniofaciosynostose	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Ansigtsspalte	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital hypoplasia of nasal turbinate	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital malposition of nasal turbinate	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal shape of vomer	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital abnormal fusion of vomer	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital fenestration of premaxilla	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Incomplete ossification of premaxilla	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Lack of ossification of premaxilla	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital hypoplasia of premaxilla	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Lateral developmental cyst of jaw	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Cleft of alveolar ridge (disorder)	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital retrognathism	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Antley-Bixler syndrome	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterised by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Kongenitte misdannelsessyndromer, der afficerer ansigtsudseendet	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Gingival cyst of neonate (disorder)	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
A rare genetic development defect during embryogenesis malformation syndrome with the association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible.	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
A rare genetic dysostosis disorder with characteristics of craniofacial bone abnormalities (for example midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital prognathism	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Fibrous dysplasia of jaw	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital asymmetry of jaw	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital alveolar hyperplasia of mandible	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Elongated left ramus of mandible	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Elongated right ramus of mandible	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital absence of right mandibular condyle	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital absence of left mandibular condyle	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Bifid mandibular condyle	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Congenital alveolar hypoplasia of mandible	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
Congenital absence of lacrimal bone	Is a	False	Congenital anomaly of face bones	Inferred relationship	Some
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (including an abnormal skull shape, hypertelorism, downslanting palpebral fissures, epicanthal folds, low-set ears, depressed nasal bridge, micrognathia), short stature, ectodermal anomalies (such as sparse eyebrows, eyelashes, and scalp hair, hypoplastic toenails), developmental delay, and intellectual disability. Additional features may include cerebral/cerebellar malformations and mild renal involvement.	Is a	True	Congenital anomaly of face bones	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
53469017	Congenital anomaly of face bones	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485098017	Face congenital deformities	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763237017	Congenital anomaly of face bones (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3001381000005118	kongenit anomali i ansigtsknogler	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)