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87290003: Congenital anomaly of head (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
144746018 Congenital anomaly of head en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
829732015 Congenital anomaly of head (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
345261000077112 anomalie congénitale de la tête fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2544 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of head Is a Congenital disease false Inferred relationship Some
Congenital anomaly of head Is a Disorder of head (disorder) true Inferred relationship Some
Congenital anomaly of head Occurrence Congenital false Inferred relationship Some
Congenital anomaly of head Finding site Head structure true Inferred relationship Some 1
Congenital anomaly of head Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of head Finding site Head structure false Inferred relationship Some 1
Congenital anomaly of head Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of head Is a Congenital disease false Inferred relationship Some
Congenital anomaly of head Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly of head Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of head Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of head Finding site Head structure false Inferred relationship Some 2
Congenital anomaly of head Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of head Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of head Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of head Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital vascular anomaly of eye Is a True Congenital anomaly of head Inferred relationship Some
Congenital absence of cranial vault (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Congenital anomaly of mouth Is a True Congenital anomaly of head Inferred relationship Some
Congenital malformation of ear (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Acephalogaster Is a True Congenital anomaly of head Inferred relationship Some
Acephalothorax Is a False Congenital anomaly of head Inferred relationship Some
Craniosynostosis syndrome Is a False Congenital anomaly of head Inferred relationship Some
Holoprosencephaly sequence Is a True Congenital anomaly of head Inferred relationship Some
Congenital intracranial vascular malformation (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Nonsyndromic premature fusion of a single suture. Is a False Congenital anomaly of head Inferred relationship Some
Nonsyndromic premature fusion of multiple sutures. Is a False Congenital anomaly of head Inferred relationship Some
Adams-Oliver syndrome Is a True Congenital anomaly of head Inferred relationship Some
Congenital malformation of mandibular glenoid fossa Is a True Congenital anomaly of head Inferred relationship Some
Congenital asymmetry of tonsils (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Imperfect fusion of skull Is a True Congenital anomaly of head Inferred relationship Some
Acephalostomia Is a False Congenital anomaly of head Inferred relationship Some
Congenital strabismus Is a True Congenital anomaly of head Inferred relationship Some
Preauricular fistula Is a False Congenital anomaly of head Inferred relationship Some
Acephalobrachius Is a True Congenital anomaly of head Inferred relationship Some
Occipitalization of atlas (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. Is a False Congenital anomaly of head Inferred relationship Some
Craniofacial cleft (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. Is a True Congenital anomaly of head Inferred relationship Some
Iniencephaly Is a True Congenital anomaly of head Inferred relationship Some
A rare skin disorder characterized by the co-occurrence of sebaceous nevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. Is a True Congenital anomaly of head Inferred relationship Some
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Is a False Congenital anomaly of head Inferred relationship Some
Cranial duplication Is a True Congenital anomaly of head Inferred relationship Some
Congenital anomaly of palate Is a True Congenital anomaly of head Inferred relationship Some
Congenital anomaly of nasal sinuses Is a True Congenital anomaly of head Inferred relationship Some
Congenital pigmented melanocytic nevus of skin of scalp (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Congenital anomaly of jaw Is a True Congenital anomaly of head Inferred relationship Some
A very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations including dyspnoea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties). When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. Is a False Congenital anomaly of head Inferred relationship Some
Congenital absence of skin on scalp with epidermal naevi Is a True Congenital anomaly of head Inferred relationship Some
Congenital macrocephaly (disorder) Is a True Congenital anomaly of head Inferred relationship Some
A rare neurological disorder characterized by a reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. Is a True Congenital anomaly of head Inferred relationship Some
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. Is a False Congenital anomaly of head Inferred relationship Some
Acrania Is a True Congenital anomaly of head Inferred relationship Some
Congenital vascular malformation of orbital region (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Congenital hypoplasia of vestibular nerve (disorder) Is a True Congenital anomaly of head Inferred relationship Some
Neurenteric cyst of intracranial structure Is a True Congenital anomaly of head Inferred relationship Some

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