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287080001: Congenital anomaly of nervous system of head/neck (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
426592010 Congenital anomaly of nervous system of head/neck en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
681268018 Congenital anomaly of nervous system of head/neck (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5843491000241119 anomalie congénitale du système nerveux de la tête et du cou fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5843501000241114 malformation du système nerveux céphalique et cervical fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of nervous system of head/neck Is a Congenital anomaly of nervous system true Inferred relationship Some
Congenital anomaly of nervous system of head/neck Finding site Structure of nervous system (body structure) false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Occurrence Congenital false Inferred relationship Some
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Is a Ear, face and neck congenital anomalies false Inferred relationship Some
Congenital anomaly of nervous system of head/neck Finding site Structure of head and/or neck (body structure) false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology anomalie congénitale false Inferred relationship Some 2
Congenital anomaly of nervous system of head/neck Is a constatation à propos d'une région de la tête et du cou false Inferred relationship Some
Congenital anomaly of nervous system of head/neck Occurrence Congenital false Inferred relationship Some 3
Congenital anomaly of nervous system of head/neck Associated morphology anomalie du développement false Inferred relationship Some 3
Congenital anomaly of nervous system of head/neck Finding site Structure of nervous system of head and neck (body structure) false Inferred relationship Some 3
Congenital anomaly of nervous system of head/neck Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Finding site Structure of nervous system of head and neck (body structure) true Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of nervous system of head/neck Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysgenesis of the cerebellum Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Congenital absence of part of brain Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Congenital hypoplasia of part of brain Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Congenital choroid plexus cyst Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Anomalies of cerebrum Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Chiari malformation (disorder) Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Agyria Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Kundrat's syndrome Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Alobar holoprosencephaly Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Dysgenesis of the brainstem Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Microgyria Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Laminar heterotopia Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Nodular heterotopia Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Cystic malformation of posterior fossa (disorder) Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Ulegyria Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Congenital anomaly of cerebrum (disorder) Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Vein of Galen malformation (disorder) Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Cervical spinal meningocele Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Cervical myelocele Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Spina bifida aperta of cervical spine (disorder) Is a False Congenital anomaly of nervous system of head/neck Inferred relationship Some
Duane's syndrome Is a True Congenital anomaly of nervous system of head/neck Inferred relationship Some
Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. Is a True Congenital anomaly of nervous system of head/neck Inferred relationship Some
Cervical myelocystocele Is a True Congenital anomaly of nervous system of head/neck Inferred relationship Some
A rare otorhinolaryngological malformation characterised by a hypoplastic or absent cochlear nerve, resulting in variable hearing loss or total deafness, depending on the quantity of nerve fibres present. The condition can be unilateral or bilateral, occur as an isolated malformation or in the context of a complex syndrome, and may be associated with a hypoplastic internal auditory or cochlear nerve canal. Is a True Congenital anomaly of nervous system of head/neck Inferred relationship Some
Congenital hypoplasia of vestibular nerve (disorder) Is a True Congenital anomaly of nervous system of head/neck Inferred relationship Some

This concept is not in any reference sets

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