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771272007: Congenital muscular dystrophy due to lamin A/C mutation (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
3705377013 Congenital muscular dystrophy due to lamin A/C mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705378015 Congenital muscular dystrophy due to LMNA (lamin A/C) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705379011 Congenital muscular dystrophy due to lamin A/C mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705380014 LMNA-related congenital muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705381013 Congenital muscular dystrophy due to LMNA mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705382018 A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705377013 Congenital muscular dystrophy due to lamin A/C mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705378015 Congenital muscular dystrophy due to LMNA (lamin A/C) mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705379011 Congenital muscular dystrophy due to lamin A/C mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705380014 LMNA-related congenital muscular dystrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3705381013 Congenital muscular dystrophy due to LMNA mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3705382018 A rare congenital muscular dystrophy with characteristics of prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. Caused by heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3382591001000118 Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5521281000241117 dystrophie musculaire congénitale due à une mutation des lamines A/C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5521281000241117 dystrophie musculaire congénitale due à une mutation des lamines A/C fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3382591001000118 Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel 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
Congenital muscular dystrophy due to LMNA mutation Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy due to LMNA mutation Is a Congenital muscular dystrophy false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy due to LMNA mutation Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy due to LMNA mutation Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy due to LMNA mutation Finding site Skeletal muscle structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy due to LMNA mutation Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital muscular dystrophy due to LMNA mutation Is a Congenital hereditary muscular dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy due to LMNA mutation 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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