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40052002: Congenital anomaly of neck (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
66709011 Congenital anomaly of neck en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
66712014 Congenital deformity of neck en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
492419012 Congenital malformation of the neck en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
776622016 Congenital anomaly of neck (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
345181000077114 anomalie congénitale du cou fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


184 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of neck Is a Disorder of neck (disorder) true Inferred relationship Some
Congenital anomaly of neck Is a Congenital disease false Inferred relationship Some
Congenital anomaly of neck Occurrence Congenital false Inferred relationship Some
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Some 1
Congenital anomaly of neck Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of neck Is a Lesion of neck false Inferred relationship Some
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Some 1
Congenital anomaly of neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of neck Is a Congenital disease false Inferred relationship Some
Congenital anomaly of neck Is a Congenital anomaly false Inferred relationship Some
Congenital anomaly of neck Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of neck Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Some 2
Congenital anomaly of neck Is a Congenital malformation true Inferred relationship Some
Congenital anomaly of neck Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of neck Finding site Neck structure true Inferred relationship Some 1
Congenital anomaly of neck Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of neck Associated morphology Morphologically abnormal structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypothyroidism Is a False Congenital anomaly of neck Inferred relationship Some
Branchial vestige Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida with hydrocephalus Is a False Congenital anomaly of neck Inferred relationship Some
Fistula of branchial cleft Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft sinus Is a False Congenital anomaly of neck Inferred relationship Some
Neck webbing (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Iniencephaly Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of sternocleidomastoid muscle Is a True Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of the thyroid gland Is a True Congenital anomaly of neck Inferred relationship Some
Cervical thymic remnant Is a False Congenital anomaly of neck Inferred relationship Some
Athyrotic hypothyroidism sequence Is a False Congenital anomaly of neck Inferred relationship Some
Klippel-Feil sequence Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft cyst Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of parathyroid glands Is a True Congenital anomaly of neck Inferred relationship Some
Congenital cervicoaural fistula Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of larynx (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Cervical rib Is a False Congenital anomaly of neck Inferred relationship Some
Jugular lymphatic obstruction sequence Is a True Congenital anomaly of neck Inferred relationship Some
Endemic cretinism Is a False Congenital anomaly of neck Inferred relationship Some
Pleonotia Is a False Congenital anomaly of neck Inferred relationship Some
Acquired pharyngoesophageal diverticulum Is a False Congenital anomaly of neck Inferred relationship Some
Congenital absence of centrum of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Congenital absence of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Cervical hemivertebra Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of hyoid bone Is a False Congenital anomaly of neck Inferred relationship Some
Congenital dilatation of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital malposition of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital malposition of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Dumbbell ossification of centrum of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Hemicentric cervical centrum Is a False Congenital anomaly of neck Inferred relationship Some
Incomplete ossification of arch of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Incomplete ossification of centrum of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Lack of ossification of arch of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Lack of ossification of centrum of cervical vertebra Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida with hydrocephalus - open Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida with hydrocephalus - closed Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida without mention of hydrocephalus Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spinal hydromeningocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical hydromyelocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spinal meningocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical meningomyelocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical myelocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical myelocystocele Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida without hydrocephalus - closed Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft, cyst or fistula; preauricular sinus Is a False Congenital anomaly of neck Inferred relationship Some
fistule cervico-auriculaire Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft Is a False Congenital anomaly of neck Inferred relationship Some
Malformation of throat Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft sinus and fistula Is a False Congenital anomaly of neck Inferred relationship Some
Branchial cleft vestige, unspecified Is a False Congenital anomaly of neck Inferred relationship Some
Other branchial cleft anomalies Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of neck NOS Is a False Congenital anomaly of neck Inferred relationship Some
Congenital iodine deficiency syndrome Is a False Congenital anomaly of neck Inferred relationship Some
Fibromatosis colli Is a False Congenital anomaly of neck Inferred relationship Some
Spina bifida of cervical region Is a False Congenital anomaly of neck Inferred relationship Some
Inherited disorder of thyroid metabolism Is a False Congenital anomaly of neck Inferred relationship Some
Platybasia Is a False Congenital anomaly of neck Inferred relationship Some
syndrome de Di George Is a False Congenital anomaly of neck Inferred relationship Some
Kenny syndrome Is a False Congenital anomaly of neck Inferred relationship Some
Cervical hemivertebra Is a False Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of cervical vertebra Is a True Congenital anomaly of neck Inferred relationship Some
Multiple endocrine neoplasia, type 2b Is a False Congenital anomaly of neck Inferred relationship Some
Cervical spina bifida without hydrocephalus - open Is a False Congenital anomaly of neck Inferred relationship Some
Preauricular sinus, pit or fistula Is a False Congenital anomaly of neck Inferred relationship Some
Vein of Galen malformation (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Dural carotid cavernous fistula (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Pleonotia Is a False Congenital anomaly of neck Inferred relationship Some
Congenital absence of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital stenosis of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital aneurysm of anterior communicating artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital dilatation of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Midline cervical cleft (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Cervical thymic remnant Is a False Congenital anomaly of neck Inferred relationship Some
Systemic to pulmonary collateral artery from right carotid artery (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Systemic to pulmonary collateral artery from left carotid artery (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Anomalous common origin of brachiocephalic artery and left common carotid artery (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Anomalous origin of left common carotid artery from brachiocephalic artery (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Thyroglossal duct anomaly Is a True Congenital anomaly of neck Inferred relationship Some
Klippel-Feil sequence Is a False Congenital anomaly of neck Inferred relationship Some
Ear, face and neck congenital anomalies Is a True Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of carotid artery Is a False Congenital anomaly of neck Inferred relationship Some
Congenital malformation of eye, ear and neck (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Branchial cleft anomaly Is a False Congenital anomaly of neck Inferred relationship Some
Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature. Is a True Congenital anomaly of neck Inferred relationship Some
A rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood. Is a True Congenital anomaly of neck Inferred relationship Some
Occipitalization of atlas (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (sagittal diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. Is a True Congenital anomaly of neck Inferred relationship Some
An extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. Is a True Congenital anomaly of neck Inferred relationship Some
Spina bifida aperta of cervical spine (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital anomaly of neck Inferred relationship Some
Fourth branchial cleft cyst (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Third branchial cleft cyst (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Second branchial cleft cyst Is a False Congenital anomaly of neck Inferred relationship Some
Cervical auricle Is a True Congenital anomaly of neck Inferred relationship Some
Fistula colli congenita Is a True Congenital anomaly of neck Inferred relationship Some
Oculopharyngeal muscular dystrophy (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Isolation of common carotid artery Is a True Congenital anomaly of neck Inferred relationship Some
Congenital pigmented melanocytic nevus of skin of neck (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Congenital anomaly of anterior portion of neck (disorder) Is a True Congenital anomaly of neck Inferred relationship Some

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This concept is not in any reference sets

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