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268239009: Congenital abnormality of skull and face bones (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
400879019 Congenital abnormality of skull and face bones en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
400880016 Skull and face bone anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
660955018 Congenital abnormality of skull and face bones (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3392970016 anomalie congénitale des os du crâne et du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

396 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital abnormality of skull and face bones Is a Congenital anomaly of skull false Inferred relationship Some
Congenital abnormality of skull and face bones Finding site Bone structure of cranium false Inferred relationship Some 1
Congenital abnormality of skull and face bones Occurrence Congenital false Inferred relationship Some
Congenital abnormality of skull and face bones Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital abnormality of skull and face bones Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital abnormality of skull and face bones Finding site Bone structure of cranium false Inferred relationship Some 1
Congenital abnormality of skull and face bones Occurrence Congenital false Inferred relationship Some 2
Congenital abnormality of skull and face bones Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital abnormality of skull and face bones Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Congenital abnormality of skull and face bones Is a Congenital anomaly of head true Inferred relationship Some
Congenital abnormality of skull and face bones Finding site Bone structure of head false Inferred relationship Some 2
Congenital abnormality of skull and face bones Occurrence Congenital true Inferred relationship Some 1
Congenital abnormality of skull and face bones Finding site Bone structure of head true Inferred relationship Some 1
Congenital abnormality of skull and face bones Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital abnormality of skull and face bones Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital abnormality of skull shape Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Localised congenital skull defect Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Dysostosis of bone of skull Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Facial asymmetry Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of face bones Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypertrophy of sphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Encephalocele Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Craniosynostosis syndrome Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of skull bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Exencephaly Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital cranial osteoporosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Cleft face Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal fusion of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of alisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of basioccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of exoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of fetal head bones Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of frontal bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of interparietal bone (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of parietal bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of squamosal bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital fenestration of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypoplasia of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypoplasia of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital malformation syndromes affecting facial appearance Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Cyclops Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Jaw congenital deformities Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Skull, face or jaw congenital deformities NOS Is a False Congenital abnormality of skull and face bones Inferred relationship Some
[X]Other congenital deformities of skull, face and jaw Is a False Congenital abnormality of skull and face bones Inferred relationship Some
[X]Other specified congenital malformations of skull and face bones Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal fusion of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital fenestration of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypoplasia of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypoplasia of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Cleft face Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal fusion of alisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of alisphenoid bone (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital fenestration of alisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of basisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of hyoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of lacrimal bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of nasal bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of palatine bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of premaxilla Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of presphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of supraoccipital bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of vomer Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of zygomatic bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital enlargement of fontanel Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital hypoplasia of alisphenoid bone Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Anterior perimaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Complete perimaxillary faciosynostosis (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Posterior perimaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Orbital deformity associated with craniofacial deformity Associated with True Congenital abnormality of skull and face bones Inferred relationship Some 2
Intermandibular dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Maxillary dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Maxillo-zygomatic dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Naso-maxillary dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Internasal dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Sphenoidal dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Vomero-premaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Premaxillo-maxillary dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal shape of vomer Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital abnormal fusion of vomer Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital malformation of sphenoid wing (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Branchiooculofacial syndrome Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of skull Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Spheno-frontal dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of face bones Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Fronto-naso-ethmoidal dysostosis Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Fronto-frontal dysostosis (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed. Is a True Congenital abnormality of skull and face bones Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Lissencephaly syndrome, Norman-Roberts type is characterized by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterised by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of supraoccipital bone Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of premaxilla Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of presphenoid bone Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Lack of ossification of auditory ossicles Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of basisphenoid bone Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Congenital absence of tympanic anulus Is a True Congenital abnormality of skull and face bones Inferred relationship Some
Fibrous dysplasia of jaw Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital anomaly of mandible Is a False Congenital abnormality of skull and 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 False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital asymmetry of jaw (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Cleft of alveolar ridge (disorder) Is a False Congenital abnormality of skull and face bones 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 False Congenital abnormality of skull and face bones Inferred relationship Some
An ectopic tooth that has erupted on the lingual aspect of the maxilla or mandible. Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital prognathism Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Congenital retrognathism (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some
Cleft lip and cleft of alveolar process of maxilla (disorder) Is a False Congenital abnormality of skull and face bones Inferred relationship Some

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