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32003007: Congenital anomaly of face bones (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
53469017 Congenital anomaly of face bones en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
485098017 Face congenital deformities en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763237017 Congenital anomaly of face bones (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
53469017 Congenital anomaly of face bones en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
53469017 Congenital anomaly of face bones en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
485098017 Face congenital deformities en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
485098017 Face congenital deformities en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
763237017 Congenital anomaly of face bones (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
763237017 Congenital anomaly of face bones (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5848061000241112 déformation congénitale des os du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5848081000241119 anomalie congénitale des os du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5848091000241117 anomalie congénitale des os de la face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5848061000241112 déformation congénitale des os du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5848081000241119 anomalie congénitale des os du visage fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5848091000241117 anomalie congénitale des os de la face fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

177 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of face bones Is a Disorder of facial bone true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a Congenital anomaly of face false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a Congenital anomaly of cartilage false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Is a Congenital abnormality of skull and face bones (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Finding site Cartilaginous tissue structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Finding site Bone structure of face false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Is a Congenital anomaly of face (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face bones Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Finding site Bone structure of face false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face bones Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face bones Is a Congenital abnormality of skull and face bones (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of face bones Finding site Bone structure of face false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of face bones Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Finding site Bone structure of face true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of face bones 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
Anterior perimaxillary faciosynostosis Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Complete perimaxillary faciosynostosis Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Posterior perimaxillary faciosynostosis Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Microgenia (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Hemifacial microsomia (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial microsomia (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral craniofacial microsomia (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of maxilla Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of mandible Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Potter's facies Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of jaw Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of vomer Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of zygomatic bone Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of vomer Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of zygomatic bone (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of hyoid bone Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lacrimal bone Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nasal bone Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of palatine bone Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of premaxilla Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of vomer (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of zygomatic bone Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Whistling face syndrome Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Fronto-parietal craniofaciosynostosis Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Cleft face Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Mandibuloacral dysostosis Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of nasal turbinate Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of nasal turbinate Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of vomer Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal fusion of vomer Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fenestration of premaxilla Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of premaxilla Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of premaxilla (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of premaxilla (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Lateral developmental cyst of jaw Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Cleft of alveolar ridge (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital retrognathism Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Antley-Bixler syndrome Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
X-linked mandibulofacial dysostosis Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Catania type (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Kennedy Teebi type (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Palagonia type (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Acrofacial dysostosis Rodriguez type (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial conodysplasia syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dyssynostosis syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes affecting facial appearance Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Patterson Stevenson Fontaine syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Oculodento-osseous dysplasia Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft of alveolar process of maxilla (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Gingival cyst of neonate (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Teebi Shaltout syndrome Is a True Congenital anomaly of face bones 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 anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Familial osteodysplasia Anderson type Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital prognathism Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Mandibulofacial dysostosis, macroblepharon, macrostomia syndrome Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Dobrow syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Holzgreve syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Papillon-Lefèvre syndrome Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous dysplasia of jaw Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital asymmetry of jaw Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral cleft lip and bilateral cleft of alveolar process of maxilla (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital alveolar hyperplasia of mandible (disorder) Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Elongated left ramus of mandible Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Elongated right ramus of mandible Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of right mandibular condyle Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of left mandibular condyle Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Bifid mandibular condyle Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital alveolar hypoplasia of mandible Is a False Congenital anomaly of face bones 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 True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of lacrimal bone Is a False Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Congenital anomaly of face bones Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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