95473006: Congenital anomaly of jaw (disorder)

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

\Head finding (finding)\Finding of head region\Disorder of jaw (disorder)\Congenital anomaly of jaw
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw
\Head finding (finding)\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of jaw
\Disease\Disorder of head (disorder)\Disorder of jaw (disorder)\Congenital anomaly of jaw
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw

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 jaw	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Congenital anomaly of jaw	Is a	Congenital anomaly of skull	false	Inferred relationship	Some
Congenital anomaly of jaw	Is a	Congenital anomaly of face	false	Inferred relationship	Some
Congenital anomaly of jaw	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of jaw	Is a	Large head	false	Inferred relationship	Some
Congenital anomaly of jaw	Is a	Disorder of jaw (disorder)	true	Inferred relationship	Some
Congenital anomaly of jaw	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of jaw	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Congenital anomaly of jaw	Finding site	Bone structure of cranium	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Finding site	Jaw region structure	true	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	5
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Is a	Congenital anomaly of face (disorder)	false	Inferred relationship	Some
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of jaw	Finding site	Jaw region structure	false	Inferred relationship	Some	1
Congenital anomaly of jaw	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Finding site	Jaw region structure	false	Inferred relationship	Some	2
Congenital anomaly of jaw	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of jaw	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of jaw	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of jaw	Is a	Congenital anomaly of head	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital retrognathism (disorder)	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Microgenia	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital macrognathism	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly of mandible	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Primordial cyst	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Byzanthine arch palate	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital maxillary hyperplasia	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital micrognathism	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital prognathism	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Cheilognathoschisis	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Globulo-maxillary cyst	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Lateral developmental cyst of jaw	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital asymmetry of jaw (disorder)	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital absence of maxilla	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Dentigerous cyst	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital abnormal fusion of maxilla	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital abnormal shape of maxilla	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Lack of ossification of maxilla	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Incomplete ossification of maxilla	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital absence of jaw	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly of maxilla	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Median palatal cyst	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Residual cyst (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Bilateral incomplete cleft lip and bilateral incomplete cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Macrogenia	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Microgenia	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Buccal bifurcation cyst	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Periodontal Ehlers-Danlos syndrome (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Cherubism	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital absence of jaw	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly of tooth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Precocious exfoliation of teeth due to root resorption following trauma (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Amelogenesis imperfecta	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Hypoplasia of cementum	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Peg-shaped teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Horner's teeth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Anomaly of tooth position	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital absence of one tooth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Moon's molar teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Regional odontodysplasia	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Shell teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly in number of teeth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Dens evaginatus	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Enamel pearls	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Precocious exfoliation of teeth due to idiopathic root resorption (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Open bite	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Midline deviation of dental arch	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Precocious exfoliation due to ectopic eruption of proximate tooth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Mottled teeth, congenital	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Protrusion of tooth (finding)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Hutchinson's teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Turner's tooth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Horizontal overbite	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Absence of teeth as a result of impaction, delayed eruption, exfoliation or extraction.	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Xeroderma, talipes and enamel defect syndrome (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Intrinsic enamel discoloration of erythroblastosis fetalis	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Exaggerated cusp of tooth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Fusion of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Crossbite	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Abnormal root proximity between adjacent teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Mesio-occlusion of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Diastema of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Impacted incisors	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Impacted premolars	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Impacted molars	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Crowding of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Ectopic tooth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Disto-occlusion of teeth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Vertical overbite	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Rotation of tooth	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Dens in dente	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Supernumerary tooth (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Cleft of alveolar ridge (disorder)	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Nance-Horan syndrome (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital failure of fusion between maxillary and mandibular processes (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital anomaly of tooth (disorder)	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Brachygnathism	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Arteriovenous malformation of mandible	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Arteriovenous malformation of maxilla (disorder)	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe.	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Cleft upper lip, upper jaw AND palate	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Cleft lip and cleft of alveolar process of maxilla (disorder)	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Non-odontogenic developmental cyst of jaw	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Odontogenic cyst	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Periodontitis co-occurrent with Chédiak-Higashi syndrome	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
Congenital epulis of newborn	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4	Is a	False	Congenital anomaly of jaw	Inferred relationship	Some
A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.	Is a	True	Congenital anomaly of jaw	Inferred relationship	Some
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible.	Is a	False	Congenital anomaly of jaw	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 jaw	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
158142013	Congenital anomaly of jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
158145010	Malformation of jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839634018	Congenital anomaly of jaw (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3030780018	Developmental disorder of jaw	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5849681000241116	malformation de la mâchoire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5849691000241119	anomalie congénitale de la mâchoire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module