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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
400879019 Congenital abnormality of skull and face bones en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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

386 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital abnormality of skull and face bones (disorder) Is a Congenital anomaly of skull false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of skull and face bones (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of skull and face bones (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of skull and face bones (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital abnormality of skull and face bones (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Finding site Bone structure of head true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital abnormality of skull and face bones (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital abnormality of skull shape Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Localized congenital skull defect (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dysostosis of bone of skull Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial asymmetry (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypertrophy of sphenoid bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocele Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis syndrome Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of skull bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Exencephaly Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cranial osteoporosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft face Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of supraoccipital bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of presphenoid bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of supraoccipital bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of alisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of basioccipital bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of exoccipital bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of fetal head bones Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of frontal bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of interparietal bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of parietal bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of squamosal bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fenestration of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of presphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of supraoccipital bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes affecting facial appearance Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cyclops Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Jaw congenital deformities Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Skull, face or jaw congenital deformities NOS Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other congenital deformities of skull, face and jaw Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified congenital malformations of skull and face bones Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of supraoccipital bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of presphenoid bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of supraoccipital bone (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of presphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of supraoccipital bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fenestration of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of presphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of supraoccipital bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft face Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of alisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of alisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fenestration of alisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of basisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hyoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lacrimal bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nasal bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of palatine bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of premaxilla Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of presphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of supraoccipital bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of vomer (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of zygomatic bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital enlargement of fontanel Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of alisphenoid bone Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Anterior perimaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Complete perimaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Posterior perimaxillary faciosynostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Orbital deformity associated with craniofacial deformity (disorder) Associated with True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Intermandibular dysostosis (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maxillary dysostosis (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Maxillo-zygomatic dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Naso-maxillary dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Internasal dysostosis (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Sphenoidal dysostosis (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Vomero-premaxillary faciosynostosis (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Premaxillo-maxillary dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of vomer Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of vomer Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of sphenoid wing Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Branchiooculofacial syndrome Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skull Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spheno-frontal dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-naso-ethmoidal dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-frontal dysostosis Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Harrod syndrome Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly syndrome Norman Roberts type Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
3C syndrome Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of supraoccipital bone Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of premaxilla (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of presphenoid bone Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of auditory ossicles Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of basisphenoid bone Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of tympanic anulus (disorder) Is a True Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia of jaw Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of mandible Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital asymmetry of jaw Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft of alveolar ridge (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dobrow syndrome (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital prognathism Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital retrognathism Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft of alveolar process of maxilla (disorder) Is a False Congenital abnormality of skull and face bones (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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