FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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
3006521014 Congenital malformation 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


501 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of central nervous system morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Congenital anomaly of central nervous system Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of central nervous system est un(e) (attribut) Congenital anomaly of nervous system true Inferred relationship Some
Congenital anomaly of central nervous system est un(e) (attribut) Disorder of the central nervous system (disorder) true Inferred relationship Some
Congenital anomaly of central nervous system morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of central nervous system localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 2
Congenital anomaly of central nervous system localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 1
Congenital anomaly of central nervous system morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of central nervous system survenue (attribut) congénital false Inferred relationship Some 2
Congenital anomaly of central nervous system morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
Congenital anomaly of central nervous system localisation d'une constatation (attribut) Structure of central nervous system (body structure) false Inferred relationship Some 2
Congenital anomaly of central nervous system survenue (attribut) congénital true Inferred relationship Some 1
Congenital anomaly of central nervous system localisation d'une constatation (attribut) Structure of central nervous system (body structure) true Inferred relationship Some 1
Congenital anomaly of central nervous system survenue (attribut) congénital false Inferred relationship Some
Congenital anomaly of central nervous system morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
NPHP3-related Meckel-like syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
SCALP syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome (disorder) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease, connatal variant (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Pelizaeus-Merzbacher disease null syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Hypoplasia of optic nerve due to central nervous system malformation Due to True Congenital anomaly of central nervous system Inferred relationship Some 2
Pelizaeus-Merzbacher disease in female carrier est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
TBCK-related intellectual disability syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Central nervous system malformation in fetus affecting obstetrical care est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
craniorachischisis est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
anomalie congénitale de l'encéphale est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Disorder of neuronal migration and differentiation est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital malformation of the meninges est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Combined malformation of central nervous system and skeletal muscle (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Cockayne syndrome est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
hydroméningocèle (trouble) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Ectopic glial tissue est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Ecchordosis physaliphora est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Amyelencephalus est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital adhesions of cerebral meninges est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital anomaly of spinal cord est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Persistent cerebral embryonic artery est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Cerebral arteriovenous malformation est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Cilioretinal artery (finding) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Bregeat's syndrome est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital cerebral arteriovenous aneurysm est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital anomaly of cerebral artery (disorder) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital aneurysm of anterior communicating artery est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Vein of Galen malformation (disorder) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital anomaly of organ of Corti est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Congenital anomaly of optic nerve est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
anomalie congénitale de l'encéphale est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Dural arteriovenous malformation est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital arteriovenous fistula of brain est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital aneurysm of anterior communicating artery est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital anomaly of cerebrovascular system est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Fetus with central nervous system malformation est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Amyelencephalus est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Disorder of neuronal migration and differentiation est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Schisis association syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Cerebrooculonasal syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Isotretinoin embryopathy-like syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Cerebral gigantism jaw cysts syndrome (disorder) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Congenital absence of optic chiasma (disorder) est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some
Ectopic grey matter est un(e) (attribut) False Congenital anomaly of central nervous system Inferred relationship Some
Oro-facial digital syndrome type 12 est un(e) (attribut) True Congenital anomaly of central nervous system Inferred relationship Some

This concept is not in any reference sets

Back to Start