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95499004: Hypoplasia of the optic nerve (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
158181013 Hypoplasia of the optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
839664014 Hypoplasia of the optic nerve (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235915012 Optic nerve hypoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235916013 ONH - Optic nerve hypoplasia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2966695018 Hypoplasia of optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2058041000005117 Hypoplasi af nervus opticus da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


12 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypoplasia of the optic nerve (disorder) Is a Congenital anomaly of optic disc false Inferred relationship Some
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology dysgenese false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Structure of central nervous system (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic disc structure false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Associated morphology Hypoplasia true Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Occurrence Congenital false Inferred relationship Some
Hypoplasia of the optic nerve (disorder) Is a Congenital anomaly of optic nerve true Inferred relationship Some
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 4
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 6
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Associated morphology kongenit anomali false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 2
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) true Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Occurrence Congenital false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Finding site Optic nerve structure (body structure) false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Associated morphology Hypoplasia false Inferred relationship Some 3
Hypoplasia of the optic nerve (disorder) Occurrence Congenital true Inferred relationship Some 1
Hypoplasia of the optic nerve (disorder) Is a Kongenitte anomalier og udviklingsanomalier i nervesystemet false Inferred relationship Some
Hypoplasia of the optic nerve (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Partial hypoplasia of optic disc Is a False Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Sectorial hypoplasia of optic disc (disorder) Is a False Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Septo-optic dysplasia sequence (disorder) Is a False Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Hypoplasia of optic disc (disorder) Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Partial hypoplasia of optic disc Is a False Hypoplasia of the optic nerve (disorder) Inferred relationship Some
A rare developmental defect during embryogenesis characterised by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Congenital hypoplasia of right optic nerve (disorder) Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Congenital hypoplasia of left optic nerve (disorder) Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Hypoplasia of optic nerve due to central nervous system malformation Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
Optic nerve hypoplasia due to endocrine deficiency Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. Is a True Hypoplasia of the optic nerve (disorder) Inferred relationship Some

This concept is not in any reference sets

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