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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
1766221014 Congenital anomaly of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1777842010 Congenital anomaly of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786204011 Facial malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786205012 Facial dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1766221014 Congenital anomaly of face (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1766221014 Congenital anomaly of face (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1777842010 Congenital anomaly of face en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1777842010 Congenital anomaly of face en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786204011 Facial malformation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786204011 Facial malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786205012 Facial dysmorphism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786205012 Facial dysmorphism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
914081000195114 anomalia congenita della faccia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393002019 anomalie congénitale du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393002019 anomalie congénitale du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
914081000195114 anomalia congenita della faccia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

999 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 Existential restriction modifier (core metadata concept)
Congenital anomaly of face (disorder) Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face (disorder) Is a Disorder of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face (disorder) Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face (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
Internasal dysostosis (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrogenia Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lip Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrofacial dysplasia (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anosmia Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of nose Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital distichiasis Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of oral cavity Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial asymmetry (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Gingival cyst of newborn Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital atresia of nares Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodontal Ehlers-Danlos syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cherubism Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nasal glial heterotopia (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deep overbite Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of eyelash Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nasal encephalocele Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Horizontal overbite Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Syphilitic saddle nose Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital blepharophimosis Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distichiasis Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of jaw (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic cilia of eyelid (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fistula of congenital auricle Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Deformity of nasal sinus wall Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital perforation of the nasal sinus wall Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deformity of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular sinus Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular fistula Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Buccal bifurcation cyst Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Saddle nose Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nose Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nasal sinuses (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microstomia (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macrostomia (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of teeth Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
museau court congénital Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Crouzon syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of chin Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of the eyebrow Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eyelid Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Weissenbacher-Zweymuller syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Potter's facies Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrogenia Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ear, face and neck congenital anomalies (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fordyce spots of buccal mucosa Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial defects as major feature Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arteriovenous malformation of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-malar faciosynostosis (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ectodermal dysplasia of face Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of tongue, mouth and pharynx Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Robinow-like syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital melanocytic nevus of skin of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Diprosopus (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Floating-Harbor syndrome (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular dimple Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Centrofacial lentiginosis syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Naso-labial cyst (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Weissenbacher-Zweymuller syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lacrimal bone Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type I Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oto-palato-digital syndrome, type II Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular cyst Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ankylosis of temporomandibular joint Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Basal encephalocele (disorder) Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a False Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital infiltrating lipomatosis of face (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic parotid gland tissue Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Accessory parotid gland (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of parotid gland (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oculopharyngeal muscular dystrophy Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cyst of conjunctiva (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Strabismus fixus Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary eye muscle Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of eye muscle Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital superior sulcus anomaly of orbit (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of vitreous humour Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of blood vessel of orbit proper (disorder) Is a True Congenital anomaly of face (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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