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363235000: Hereditary disorder of 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
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

1219 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 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
Self-limited familial neonatal-infantile epilepsy 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
Self-limited familial infantile epilepsy 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
Rett syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 12 Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 13 Is a True Hereditary disorder of nervous system Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Hereditary disorder of nervous system Inferred relationship Some
Mitchell syndrome Is a True Hereditary disorder of nervous system Inferred relationship Some
Familial sleep-related hypermotor epilepsy (disorder) Is a True Hereditary disorder of nervous system Inferred relationship Some
Full schwannomatosis Is a True Hereditary disorder of nervous system Inferred relationship Some

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