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128124001: Congenital anomaly of central nervous system (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
194718019 Congenital anomaly of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732087017 Congenital anomaly of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006521014 Congenital malformation of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
194718019 Congenital anomaly of central nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
194718019 Congenital anomaly of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732087017 Congenital anomaly of central nervous system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
732087017 Congenital anomaly of central nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006521014 Congenital malformation of central nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006521014 Congenital malformation of central nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
155331000274118 Angeborene Fehlbildung des ZNS de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
476201000274110 Kongenitale Anomalie des zentralen Nervensystems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670071000274111 Angeborene Fehlbildung des zentralen Nervensystems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5891121000241118 anomalie congénitale du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5891131000241116 malformation du SNC (système nerveux central) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5891121000241118 anomalie congénitale du système nerveux central fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5891131000241116 malformation du SNC (système nerveux central) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
155331000274118 Angeborene Fehlbildung des ZNS de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
476201000274110 Kongenitale Anomalie des zentralen Nervensystems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
670071000274111 Angeborene Fehlbildung des zentralen Nervensystems de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

467 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of central nervous system (disorder) Is a Congenital anomaly of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of central nervous system (disorder) Is a Disorder of the central nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of central nervous system (disorder) Finding site Structure of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of central nervous system (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of central nervous system (disorder) Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of central nervous system (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of central nervous system (disorder) Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of central nervous system (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of central nervous system (disorder) 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
Ectopic grey matter Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Central nervous system malformation in fetus affecting obstetrical care Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniorachischisis Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyelencephalus (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of spinal cord Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of optic nerve Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of neuronal migration and differentiation Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of the meninges Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined malformation of central nervous system and skeletal muscle Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cockayne syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
hydroméningocèle Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectopic glial tissue Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ecchordosis physaliphora (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital adhesions of cerebral meninges Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Persistent cerebral embryonic artery Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebral arteriovenous malformation (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cilioretinal artery (finding) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bregeat's syndrome Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebral arteriovenous aneurysm (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebral artery Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital aneurysm of anterior communicating artery Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Vein of Galen malformation (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of organ of Corti Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dural arteriovenous malformation Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital arteriovenous fistula of brain Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital aneurysm of anterior communicating artery Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrovascular system Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fetus with central nervous system malformation Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Amyelencephalus (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of neuronal migration and differentiation Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Schisis association syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrooculonasal syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isotretinoin embryopathy-like syndrome (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de gigantisme cérébral-kystes maxillaires Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of optic chiasma (disorder) Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 12 Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Nephrocystin 3-related Meckel-like syndrome (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare skin disease characterised by the association of sebaceous naevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic naevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome Is a False Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of optic nerve due to central nervous system malformation Due to True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept) 2
Pelizaeus-Merzbacher disease in female carrier Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
TBCK-related intellectual disability syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
RERE-related neurodevelopmental syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myelinated nerve fiber layer of retina Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurocutaneous melanosis Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
CIMDAG syndrome Is a True Congenital anomaly of central nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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