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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
66709011 Congenital anomaly of neck en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
345181000077114 anomalie congénitale du cou fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

178 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of neck Is a Disease of neck true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Is a Lesion of neck false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of neck Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of neck Finding site Neck structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of neck Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neck Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Finding site Neck structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of neck Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
Congenital kyphosis of cervicothoracic spine (disorder) Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of second branchial cleft (disorder) Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of third branchial cleft Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of fourth branchial cleft Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)
Displacement of Wharton's duct Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of cervical vertebral column (disorder) Is a True Congenital anomaly of neck Inferred relationship Existential restriction modifier (core metadata concept)

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