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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 anomaly of anterior portion of neck (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age. Is a True Congenital anomaly of neck Inferred relationship Some
Congenital kyphosis of cervicothoracic spine (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
A rare otorhinolaryngological malformation characterized by the presence of a cyst, sinus or fistula occurring along the anterior border of the sternocleidomastoid muscle. Second branchial cleft fistulae and sinuses present with skin opening with chronic discharge and recurrent infections, whereas second branchial cleft cysts present as a painless, nontender, stable in size or slowly enlarging lateral neck masses. Cysts occasionally acutely increase in size during upper respiratory tract infection, leading to respiratory compromise, torticollis, and dysphagia. Is a True Congenital anomaly of neck Inferred relationship Some
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A third branchial cleft fistula passes superficial to both the superior and recurrent laryngeal nerves, which is the main difference in comparison to the fourth branchial cleft fistula. Is a True Congenital anomaly of neck Inferred relationship Some
A rare otorhinolaryngeal malformation characterized by a soft, fluctuant mass, abscess or draining tract along the anterior border of the lower half of sternocleidomastoid muscle, occasionally leading to development of retropharyngeal abscess, acute suppurative thyroiditis, stridor, respiratory distress, odynophagia, and dysphagia. Anomaly occurs as a tract from the piriform sinus to the thyroid gland. A fourth branchial cleft fistula passes deep to the superior laryngeal nerve but superficial to the recurrent laryngeal nerve, which is the main difference in comparison to the third branchial cleft fistula. Is a True Congenital anomaly of neck Inferred relationship Some
Displacement of Wharton's duct Is a False Congenital anomaly of neck Inferred relationship Some
Aplasia of cervical vertebral column Is a True Congenital anomaly of neck Inferred relationship Some
Congenital hypoplasia of cervical vertebral column (disorder) Is a True Congenital anomaly of neck Inferred relationship Some
Congenital hypoplasia of facet joint of cervical spine (disorder) Is a False Congenital anomaly of neck Inferred relationship Some
Congenital hypoplasia of muscle of neck (disorder) Is a True Congenital anomaly of neck Inferred relationship Some

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