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

717827000: Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3323651012 Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323652017 Hereditary sensory and autonomic neuropathy with spastic paraplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323653010 HSAN (hereditary sensory and autonomic neuropathy) with spastic paraplegia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323654016 Syndrome with the association of an axonal sensory and autonomic neuropathy and spastic paraplegia. So far, around nine families have been described in the literature, together with a few sporadic cases. Onset occurs between 1 and 5 years of age with spasticity and progressive severe loss of temperature and pain sensation associated with ulcero-mutilating acropathy. Linkage to chromosome 5q15.31-14.1 was identified in a consanguineous Moroccan family with an autosomal recessive mode of inheritance. Early reports suggested autosomal dominant inheritance but transmission in more recently described families appeared to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) morphologie associée (attribut) Degenerative abnormality false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) est un(e) (attribut) Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) évolution clinique (attribut) progressif true Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) est un(e) (attribut) neuropathie héréditaire sensitive et autonomique true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) est un(e) (attribut) Complicated hereditary spastic paraplegia true Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) survenue (attribut) congénital false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) structure d'un nerf true Inferred relationship Some 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) structure du système nerveux périphérique true Inferred relationship Some 4
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) Autonomic nervous system structure true Inferred relationship Some 3
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 6
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) survenue (attribut) congénital false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 1
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Hereditary sensory and autonomic neuropathy with spastic paraplegia (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start