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398302004: Congenital anomaly of face (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
1766221014 Congenital anomaly of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1777842010 Congenital anomaly of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1786204011 Facial malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1786205012 Facial dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

814 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of face (disorder) Is a Congenital anomaly of head true Inferred relationship Some
Congenital anomaly of face (disorder) Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of face (disorder) Is a Disorder of face (disorder) true Inferred relationship Some
Congenital anomaly of face (disorder) Occurrence Congenital false Inferred relationship Some
Congenital anomaly of face (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of face (disorder) Finding site Face structure false Inferred relationship Some 1
Congenital anomaly of face (disorder) Finding site Face structure true Inferred relationship Some 1
Congenital anomaly of face (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of face (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of face (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Congenital anomaly of face (disorder) Finding site Face structure false Inferred relationship Some 2
Congenital anomaly of face (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of face (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Congenital anomaly of face (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Internasal dysostosis Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Kohlschutter's syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Macrogenia Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of lip Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Cerebrofacial dysplasia Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anosmia Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital absence of nose Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital distichiasis Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital abnormality of oral cavity Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Facial asymmetry Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of face bones Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Gingival cyst of newborn Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital atresia of nares Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Ehlers-Danlos syndrome, type 8 Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Cherubism Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Nasal glial heterotopia Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Deep overbite Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital absence of eyelash Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Nasal encephalocele Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Horizontal overbite Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Syphilitic saddle nose Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital blepharophimosis Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Distichiasis Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of jaw Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Ectopic cilia of eyelid Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Fistula of congenital auricle Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Deformity of nasal sinus wall Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital perforation of the nasal sinus wall Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital deformity of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Preauricular sinus Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Preauricular fistula Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Mandibuloacral dysostosis Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Buccal bifurcation cyst Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Saddle nose Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of nose Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of nasal sinuses Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Microstomia Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital macrostomia Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of teeth Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenitally short snout Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Crouzon syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital absence of chin (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital malformation of the eyebrow Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of eyelid Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Weissenbacher-Zweymuller syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Potter's facies Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Macrogenia Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Ear, face and neck congenital anomalies Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Fordyce spots of buccal mucosa (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Multiple malformation syndrome with facial defects as major feature Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Arteriovenous malformation of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Fronto-malar faciosynostosis Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital ectodermal dysplasia of face Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital malformation of tongue, mouth and pharynx Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Robinow-like syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Congenital melanocytic nevus of face Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Diprosopus Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Floating-Harbour syndrome Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Preauricular dimple Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Centrofacial lentiginosis syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Naso-labial cyst Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Some
Weissenbacher-Zweymuller syndrome Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Robinow syndrome Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital anomaly of lacrimal bone Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Oto-palato-digital syndrome, type I Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Oto-palato-digital syndrome, type II Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Preauricular cyst Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Congenital ankylosis of temporomandibular joint (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Basal encephalocele (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Cutis laxa-corneal clouding-oligophrenia syndrome Is a True Congenital anomaly of face (disorder) Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Some

This concept is not in any reference sets

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