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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
482376012 Hereditary disorder of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6244341000241113 affection héréditaire du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1226 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of nervous system (disorder) Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Is a Disease of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of nervous system (disorder) Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 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 (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Primary dystonia DYT27 type Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Giant axonal neuropathy (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive myoclonic epilepsy type 9 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal brain and heart developmental defects syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital isolated adrenocorticotropic hormone deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar-facial-dental syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Albinism with deafness syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leptin deficiency Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neuroferritinopathy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dystonia 28 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rett syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive hereditary arginine vasopressin deficiency (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 12 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 13 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 14 Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Mitchell syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Full schwannomatosis Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Integral membrane protein 2B related amyloidosis (disorder) Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Alkuraya Kucinskas syndrome Is a True Hereditary disorder of nervous system (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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