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1156840002: X-linked distal hereditary motor neuropathy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4576305012 X-linked distal hereditary motor neuropathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4576306013 X-linked distal hereditary motor neuropathy (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
7714691000241110 neuropathie motrice distale héréditaire liée à l'X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked distal hereditary motor neuropathy Is a X-linked hereditary disease true Inferred relationship Some
X-linked distal hereditary motor neuropathy Finding site Nerve structure true Inferred relationship Some 2
X-linked distal hereditary motor neuropathy Is a Hereditary disorder of nervous system true Inferred relationship Some
X-linked distal hereditary motor neuropathy Finding site Peripheral nervous system structure true Inferred relationship Some 1
X-linked distal hereditary motor neuropathy Is a Peripheral motor neuropathy true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. Is a True X-linked distal hereditary motor neuropathy Inferred relationship Some
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. Is a True X-linked distal hereditary motor neuropathy Inferred relationship Some
A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. Muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. Is a True X-linked distal hereditary motor neuropathy Inferred relationship Some

This concept is not in any reference sets

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