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363235000: Hereditary disorder of nervous system (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
482376012 Hereditary disorder of nervous system en Synonym Active Entire term case insensitive SNOMED CT core module
755036018 Hereditary disorder of nervous system (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


1163 descendants. Search Descendants:

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 Existential restriction modifier
Hereditary disorder of nervous system Is a Disorder of nervous system true Inferred relationship Existential restriction modifier
Hereditary disorder of nervous system Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Primary dystonia type 27 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Giant axonal neuropathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Prune exopolyphosphatase 1-related neurological syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 9 Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lethal brain and heart developmental defects syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Contactin associated protein 2-related developmental and epileptic encephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Hereditary continuous muscle fiber activity Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign familial neonatal-infantile seizures Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital isolated adrenocorticotropic hormone deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Cerebellar-facial-dental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Elastin microfibril interfacer 1 related connective tissue disease Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Benign familial infantile epilepsy Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Oculocerebrodental syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Congenital leptin deficiency Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier
Polyendocrine polyneuropathy syndrome Is a True Hereditary disorder of nervous system Inferred relationship Existential restriction modifier

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