FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

68616007: Primary atrophy (morphologic abnormality)

Status: current, Not 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
113973012 Primary atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
113974018 Essential atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808471016 Primary atrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
113973012 Primary atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
113973012 Primary atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
113974018 Essential atrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
113974018 Essential atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
808471016 Primary atrophy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
808471016 Primary atrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary atrophy Is a Atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Hereditary motor and sensory neuropathy with optic atrophy Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary lacrimal atrophy Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hereditary optic atrophy Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary optic atrophy (disorder) Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Leber's optic atrophy Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary optic atrophy NOS Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Leber's optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary motor and sensory neuropathy with optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Dominant hereditary optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary lacrimal atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary optic atrophy NOS Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Hereditary optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant optic atrophy plus syndrome (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant optic atrophy classic form (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant optic atrophy and peripheral neuropathy syndrome (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant optic atrophy and cataract (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Early-onset X-linked optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary bilateral optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary bilateral optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary right optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Hereditary left optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 6
Wolfram-like syndrome Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 7
Optic atrophy, intellectual disability syndrome Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile cerebellar and retinal degeneration (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive optic atrophy type 7 (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Fatal X-linked ataxia with deafness and loss of vision (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 55 (disorder) Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 57 Associated morphology False Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 3
SPOAN and SPOAN-related disorder Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive optic atrophy type 6 (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Childhood-onset autosomal dominant optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy of bilateral eyes (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy of bilateral eyes (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive bilateral optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive bilateral optic atrophy (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 74 Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 55 (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 57 Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked optic atrophy Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary atrophy of left lacrimal gland (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary atrophy of bilateral lacrimal glands (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary atrophy of bilateral lacrimal glands (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 2
Primary atrophy of right lacrimal gland Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy of left eye (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary optic atrophy of right eye (disorder) Associated morphology True Primary atrophy Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

Back to Start