230764002: Congenital and developmental anomalies of the nervous system (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

345758013 Congenital and developmental anomalies of the nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

618616017 Congenital and developmental anomalies of the nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2621671000005118 Kongenitte anomalier og udviklingsanomalier i nervesystemet da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Is a	Disorder of nervous system (disorder)	false	Inferred relationship	Some
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Is a	Congenital disease	false	Inferred relationship	Some
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Occurrence	Congenital	false	Inferred relationship	Some
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Is a	Neurological lesion	false	Inferred relationship	Some
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Kongenitte anomalier og udviklingsanomalier i nervesystemet	Associated morphology	dysgenese	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital dysarthria	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital anomaly of nervous system	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital spastic foot	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital athetosis	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
[X]Cerebral palsy and other paralytic syndromes	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Sene sekundære abnormiteter i centralnervesystemet	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cerebral dysgenese	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
dermoidcyste i hjernen	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hamartoma of brain	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Aqueduct of Sylvius anomaly	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Rathke's pouch cyst	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital anomaly of nervous system	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Aplasia of corpus callosum	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Immature autonomic system (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Partial absence of septum pellucidum (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Spinalt meningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cervikalt spinalt hydromeningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
spinal dermoidcyste	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Intramedullary glomus arteriovenous malformation of spinal cord (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Anomalier af cerebrovaskulære system	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Mikrocefalus	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cavernous hemangioma of brain (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital cerebral cyst	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hydromeningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Temporal encephalocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
A rare disorder that presents as a flat neural placode (at the level of the skin of the back) that is exposed to the environment. The lack of expansion of the subarachnoid space distinguishes this lesion from myelomeningocele.	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Parietal encephalocele (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Foster med misdannelse i centralnervesystemet	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Anencephalus	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hemianencephaly	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital cerebral hernia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cerebral arteriovenous malformation	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Spinalt hydromeningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Malformation of central nervous system of fetus (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Melanocytoma of meninges	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Melanocytoma of optic nerve head	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital spinal meningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Olivary heterotopia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Optic disc dysplasia (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital hypoplasia of brain	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Occipital encephalocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Klippel-Feil sequence	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cortical dysplasia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital stricture of cerebral artery	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Developmental displacement of brachial plexus	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital cerebral ventriculomegaly (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital stenosis of aqueduct of Sylvius	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (including talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Diastematomyeli	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Meningoencephalocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Spinal cord hypoplasia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Ectopic gray matter	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Arachnoidea-/ependymacyste	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital abnormal shape of cerebellum	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital hydrocephalus	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hydromyelia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital porencephaly	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Megalopapilla (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
A rare syndromic central nervous system malformation characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11.	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital abnormal shape of cerebrum	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Nasal encephalocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Olive dysplasia	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital cerebral meningocele	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Ectopic pituitary tissue	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Macroencephaly	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Macrogyria (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Atresia of aqueduct of Sylvius	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Accessory pituitary gland	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Occult spinal dysraphism sequence	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Immature ganglionosis of large intestine (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Hypoplasia of the optic nerve (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Foramen of Magendie atresia (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital hypoganglionosis of large intestine (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Congenital coloboma of optic disc	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Foramen of Luschka atresia (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Neuronal choristoma	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cystic malformation of posterior fossa (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Chiari malformation	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Cerebellar cortical dysplasia (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Dural arteriovenous malformation (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Myeloschisis (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some
Iniencephaly (disorder)	Is a	False	Kongenitte anomalier og udviklingsanomalier i nervesystemet	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
345758013	Congenital and developmental anomalies of the nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
618616017	Congenital and developmental anomalies of the nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2621671000005118	Kongenitte anomalier og udviklingsanomalier i nervesystemet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)