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95477007: Congenital degeneration 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
158152012 Congenital degeneration of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
158155014 Congenital neurological degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839638015 Congenital degeneration of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
158152012 Congenital degeneration of nervous system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
158152012 Congenital degeneration of nervous system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
158155014 Congenital neurological degeneration en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
158155014 Congenital neurological degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839638015 Congenital degeneration of nervous system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
839638015 Congenital degeneration of nervous system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4730591000241118 dégénérescence congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4730591000241118 dégénérescence congénitale du système nerveux fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

16 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital degeneration of nervous system Is a Congenital anomaly of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital degeneration of nervous system Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Associated morphology Congenital degeneration false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Associated morphology Congenital degeneration false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Is a Degenerative disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital degeneration of nervous system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital degeneration of nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital degeneration of nervous system Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital degeneration of nervous system Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital degeneration of nervous system Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital degeneration of nervous system Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital degeneration of nervous system Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital chorioretinal degeneration (disorder) Is a False Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Aicardi's syndrome Is a False Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease, connatal variant Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis and intracranial calcification syndrome Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease null syndrome Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Pelizaeus-Merzbacher disease in female carrier Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)
Proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome (disorder) Is a True Congenital degeneration of nervous system Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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