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125384005: Diffuse 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
193874012 Diffuse atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
729204010 Diffuse atrophy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2518631000005110 Diffus atrofi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diffuse atrophy Is a Atrophy (morphologic abnormality) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Diffuse secondary atrophy of choroid Associated morphology False Diffuse atrophy Inferred relationship Some 1
Diffuse secondary choroid atrophy Associated morphology True Diffuse atrophy Inferred relationship Some 1
A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. Associated morphology True Diffuse atrophy Inferred relationship Some 2
A rare genetic central nervous system malformation syndrome with characteristics of congenital progressive microcephaly, neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated. Caused by compound heterozygous mutation in the QARS gene on chromosome 3p21. Associated morphology True Diffuse atrophy Inferred relationship Some 1
Macular diffuse atrophy Associated morphology True Diffuse atrophy Inferred relationship Some 1
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 Diffuse atrophy Inferred relationship Some 1
Diffuse secondary atrophy of choroid of right eye (disorder) Associated morphology True Diffuse atrophy Inferred relationship Some 1
Diffuse secondary atrophy of choroid of left eye (disorder) Associated morphology True Diffuse atrophy Inferred relationship Some 1
Diffuse secondary atrophy of choroid of bilateral eyes (disorder) Associated morphology True Diffuse atrophy Inferred relationship Some 1
Diffuse secondary atrophy of choroid of bilateral eyes (disorder) Associated morphology True Diffuse atrophy Inferred relationship Some 2

This concept is not in any reference sets

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