FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

192781003: leucodystrophie (trouble)

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
2470024014 Leukodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2788789012 Leukodystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
296959019 Leucodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
699691000077119 leucodystrophie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
77171000077118 leucodystrophie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

44 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Leukodystrophy est un(e) (attribut) maladie dégénérative du système nerveux central true Inferred relationship Some
Leukodystrophy est un(e) (attribut) Hereditary disorder of nervous system false Inferred relationship Some
Leukodystrophy morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Leukodystrophy morphologie associée (attribut) Myelin sheath alteration false Inferred relationship Some 1
Leukodystrophy est un(e) (attribut) lésion neurologique true Inferred relationship Some
Leukodystrophy est un(e) (attribut) affection dégénérative false Inferred relationship Some
Leukodystrophy est un(e) (attribut) System disorder of the nervous system (disorder) false Inferred relationship Some
Leukodystrophy morphologie associée (attribut) Myelin sheath alteration true Inferred relationship Some 1
Leukodystrophy morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some 1
Leukodystrophy localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Leukodystrophy localisation d'une constatation (attribut) Myelinated nerve fiber structure true Inferred relationship Some 1
Leukodystrophy localisation d'une constatation (attribut) White matter structure of brain and spinal cord (body structure) true Inferred relationship Some 2
Leukodystrophy est un(e) (attribut) Neuropathy (disorder) true Inferred relationship Some
Leukodystrophy est un(e) (attribut) Disorder of the central nervous system (disorder) false Inferred relationship Some
Leukodystrophy morphologie associée (attribut) Dystrophy (morphologic abnormality) true Inferred relationship Some 2
Leukodystrophy localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Metachromatic leukodystrophy, adult type est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Pelizaeus-Merzbacher disease est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Alexander's disease est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Vanishing white matter disease (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Multiple mitochondrial dysfunctions syndrome type 4 est un(e) (attribut) True Leukodystrophy Inferred relationship Some
4H leukodystrophy (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
NK6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Galactosylceramide beta-galactosidase deficiency est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Neuroaxonal leukodystrophy (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Leucodystrophy without a known biochemical basis est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Globoid cell leucodystrophy, late-onset est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Dalmatian leukodystrophy (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
HSMN IV est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Leucodystrophy NOS est un(e) (attribut) False Leukodystrophy Inferred relationship Some
leucodystrophie autosomique dominante de l'adulte est un(e) (attribut) True Leukodystrophy Inferred relationship Some
RNA polymerase III-related leukodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Progressive encephalopathy with severe infantile anorexia (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Pelizaeus Merzbacher like disease (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Cerebroretinal vasculopathy (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Odontoleukodystrophy (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
X-linked spastic paraplegia type 2 (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Dermatoleukodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some
Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome (disorder) est un(e) (attribut) False Leukodystrophy Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) est un(e) (attribut) True Leukodystrophy Inferred relationship Some
TUBB4A-related leukodystrophy est un(e) (attribut) True Leukodystrophy Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Back to Start