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88425004: Congenital anomaly of nervous system (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
146609011 Congenital anomaly of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146614010 Congenital disease of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146615011 Congenital lesion of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146616012 Congenital deformity of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
508025017 Congenital malformation of the nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831106014 Congenital anomaly of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
146609011 Congenital anomaly of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146609011 Congenital anomaly of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146610018 Congenital anomaly of nervous system, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146611019 Congenital disease of nervous system, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146612014 Congenital lesion of nervous system, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146613016 Congenital deformity of nervous system, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146614010 Congenital disease of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146614010 Congenital disease of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146615011 Congenital lesion of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146615011 Congenital lesion of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
146616012 Congenital deformity of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
146616012 Congenital deformity of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
508025017 Congenital malformation of the nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
508025017 Congenital malformation of the nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
831106014 Congenital anomaly of nervous system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
831106014 Congenital anomaly of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
935541000195117 anomalia congenita del sistema nervoso it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
71291000077118 anomalie congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
71291000077118 anomalie congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
935541000195117 anomalia congenita del sistema nervoso it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

600 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of nervous system Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Is a Disease of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Is a Neurological lesion false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nervous system Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nervous system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nervous system Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nervous system Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Coffin-Siris syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spinobulbar atrophy Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Late secondary abnormalities of the central nervous system Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Syringomyelia Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neural tube defect Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Abnormality of neurogenesis Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Defect of telencephalic division Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of neuronal migration and differentiation Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Microdysgenesis Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Chiari malformation Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Abnormality of canalization and retrogressive differentiation (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Vascular malformation of the nervous system (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of the meninges Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
dysgénésie cérébrale Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital non-progressive ataxia Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of visual system Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of central nervous system (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
syringomyélobulbie Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cockayne syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of the peripheral nervous system Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dubowitz's syndrome (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
De Lange syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital degeneration of nervous system Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital flaccid paralysis Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Syringomyelia and syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformities of brain Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Anomalies of cerebrum Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brain anomaly Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital spinal cord anomaly Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Arachnoid / ependymal cyst Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nervous system of head/neck Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Other nervous system congenital anomalies Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Other specified brain anomalies Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Other specified nervous system anomalies Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Unspecified nervous system anomaly of brain, cord and nervous system Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Nervous system anomalies NOS Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
[X]Congenital malformations of the nervous system Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified congenital malformations of brain Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified congenital malformations of nervous system Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital CNS anomalies NOS Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic neuronal tissue Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
polyneuropathie congénitale Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic grey matter Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Alstrom syndrome Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of neural structure of trunk Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of nerve Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the cerebellum Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
syringomyélobulbie Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of neuronal migration and differentiation Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Syringobulbia Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Defect of telencephalic division Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital athetosis (disorder) Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of autonomic nervous system Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination neuropathy arthrogryposis syndrome (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocraniocutaneous lipomatosis Is a False Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypomyelinating neuropathy Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Ecchordosis physaliphora (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Proteus syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Fibrous skin tumor of tuberous sclerosis Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary tuberous sclerosis (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary neurocutaneous angiomata (disorder) Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Papular epidermal naevi with skyline basal cell layers syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis, congenital form Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anosmia Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia Is a True Congenital anomaly of nervous system Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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