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363235000: Hereditary disorder of nervous system (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of nervous system	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of nervous system	Is a	Disorder of nervous system (disorder)	true	Inferred relationship	Some
Hereditary disorder of nervous system	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Primary dystonia DYT27 type	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Giant axonal neuropathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Progressive myoclonic epilepsy type 9	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
PCNA-related progressive neurodegenerative photosensitivity syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Lethal brain and heart developmental defects syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Duane retraction syndrome with congenital deafness	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
CNTNAP2-related developmental and epileptic encephalopathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Hereditary continuous muscle fiber activity	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Benign familial neonatal-infantile seizures (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Congenital isolated adrenocorticotropic hormone deficiency (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
PYCR2-related microcephaly, progressive leucoencephalopathy	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Cerebellar-facial-dental syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
EMILIN-1-related connective tissue disease	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Benign familial infantile epilepsy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Albinism with deafness syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Congenital leptin deficiency	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Polyendocrine polyneuropathy syndrome (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Neuroferritinopathy (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Dystonia 28	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some
Triopia	Is a	True	Hereditary disorder of nervous system	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
482376012	Hereditary disorder of nervous system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
755036018	Hereditary disorder of nervous system (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12699751000172111	affection héréditaire du système nerveux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913741000172117	hereditaire aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4913751000172115	erfelijke aandoening van zenuwstelsel	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)