C12663
Family history member with medical condition count
Count of family members with history of medical condition
Supplemental
Family History
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02008
Medication prior or concomitant end date and time
The date (and time, if applicable and known) the administration of the prior/concomitant medication ended
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02016
Medication prior or concomitant start date and time
The date (and time, if applicable and known) on which the prior/concomitant medication usage began
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C18737
Medication prior or concomitant route type other text
The free-text field related to 'Medication prior or concomitant route type', specifying other text. Type of access route for the administration of the prior/concomitant medication
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02015
Medication prior or concomitant route type
Type of access route for the administration of the prior/concomitant medication
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02013
Medication prior or concomitant dose unit of measure UCUM code
Code that represents the dosage unit of measure of the prior or concomitant medication administered. Unified Code for Units of Measure (UCUM)
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02022
Medication prior or concomitant dose unit of measure
Dosage unit of measure of the prior or concomitant medication administered
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C02006
Medication prior or concomitant dose
Dose of prior/concomitant medication taken per administration
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C18736
Medication prior or concomitant dose unit of measure other text
The free-text field related to 'Medication prior or concomitant dose unit of measure', specifying other text. Dosage unit of measure of the prior or concomitant medication administered
Supplemental-Highly Recommended
Prior and Concomitant Medications
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12806
Gene protein variant or mutation name
The Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12805
Gene mRNA variant or mutation name
The Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12804
Gene cDNA variant or mutation name
The Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12803
Gene variant or mutation implications confirmed mRNA analysis indicator
Whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12802
Gene variant or mutation mRNA analysis performed indicator
Whether messenger ribonucleic acid (mRNA) analysis was performed
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12801
Gene point mutation nonsense variant codon type
Type of nonsense variant or point mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12800
Gene missense nonsense variant or point mutation insertion deletion type
The insertion deletion type of the missense/nonsense variant or point mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C17890
Allele number one missense nonsense variant or point mutation subclass information type
Type of missense/nonsense variant or point mutation subclass information, first allele number one
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C17893
Gene missense nonsense variant or point mutation location other text
Text about missense/nonsense variant or point mutation at locations other than the exon and intron
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C17894
Gene missense nonsense variant or point mutation location intron text
Text about missense/nonsense variant or point mutation at the intron
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C17889
Gene missense nonsense variant or point mutation location exon text
Text about missense/nonsense variant or point mutation at the exon
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12798
Gene missense nonsense variant or point mutation location type
Type of location of the missense/nonsense variant or point mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C18875
Gene targeted variant or mutational analysis other text
The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12797
Gene targeted variant or mutational analysis type
Type of targeted variant or mutational analysis performed for the gene
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12796
Gene targeted variant or mutational analysis indicator
Whether variant or mutational analysis was targeted at a particular variant or mutation
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
C12795
Gene coding region sequenced indicator
For missense/nonsense variant or point mutations or pseudoexons, whether the entire coding region was sequenced for the allele of the gene
Supplemental
Mutation Analysis
False
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy