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777999008: Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736350014 HBSL - hypomyelination, brain stem, spinal cord, leg spasticity en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736351013 Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736352018 Hypomyelination with brain stem and spinal cord involvement and leg spasticity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3732003010 A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736350014 HBSL - hypomyelination, brain stem, spinal cord, leg spasticity en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3736351013 Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736352018 Hypomyelination with brain stem and spinal cord involvement and leg spasticity en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3732003010 A rare genetic leukodystrophy disorder with characteristics of diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia and motor developmental delay as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts. Caused by homozygous or compound heterozygous mutation in the DARS gene on chromosome 2q21. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3452581001000117 Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898881000172111 hypomyélinisation avec atteinte du tronc cérébral et de la moelle épinière et spasticité des jambes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975631000172118 HBSL - hypomyelination with brain stem and spinal cord involvement and leg spasticity fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
898881000172111 hypomyélinisation avec atteinte du tronc cérébral et de la moelle épinière et spasticité des jambes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
975631000172118 HBSL - hypomyelination with brain stem and spinal cord involvement and leg spasticity fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3452581001000117 Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Associated morphology Myelin sheath alteration true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Finding site Myelinated nerve fiber structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a Hereditary disorder of nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a Leucodystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Finding site White matter structure of brain and spinal cord (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) Is a Hereditary degenerative disease of central nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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