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784391002: Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3764266015 Autosomal dominant late-onset spinal muscular atrophy Finkel type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3764267012 Autosomal dominant adult-onset proximal spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3764268019 Finkel disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3764269010 Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3764270011 SMAFK - spinal muscular atrophy Finkel type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3764271010 A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3764266015 Autosomal dominant late-onset spinal muscular atrophy Finkel type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3764267012 Autosomal dominant adult-onset proximal spinal muscular atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3764268019 Finkel disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3764269010 Autosomal dominant adult-onset proximal spinal muscular atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3764270011 SMAFK - spinal muscular atrophy Finkel type en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3764271010 A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3449001001000110 Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807091000241111 amyotrophie proximale autosomique dominante de la moelle spinale débutant à l'âge adulte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807101000241119 maladie de Finkel fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807091000241111 amyotrophie proximale autosomique dominante de la moelle spinale débutant à l'âge adulte fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5807101000241119 maladie de Finkel fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3449001001000110 Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante 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
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Is a Spinal muscular atrophy true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Occurrence Adulthood true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Finding site Nervous system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Is a Chronic nervous system disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic motor neuron disease with characteristics of adult-onset of slowly progressive proximal muscular weakness with fasciculations, amyotrophy, cramps and absent/hypoactive reflexes without bulbar or pyramidal involvement. Caused by heterozygous mutation in the gene encoding vesicle-associated membrane protein-associated protein B (VAPB) on chromosome 20q13. Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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