Inglés

The dataset provides diagnostic (Bernier and Morava criteria) and sociodemographic, including age of onset, information. For the current version (.v2) data of several phenotype variables have been added, including information about clinical phenotypes observed among study participants.

6 formularios  
pht002138
Descripción

pht002138

Alias
UMLS CUI [1,1]
C3846158
Deidentified Subject's ID
Descripción

SUBJID

Tipo de datos

text

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Design number of the hybrid selection reagents
Descripción

HYBRID_SELECTION_DESIGN

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0034760
UMLS CUI [1,2]
C4724475
Gender of participant
Descripción

GENDER

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399
Description of patient phenotype and clinical history
Descripción

CLINICAL_DESCRIPTION

Tipo de datos

text

Unidades de medida
  • String
Alias
UMLS CUI [1,1]
C5204342
UMLS CUI [1,2]
C0031437
Self-reported ancestry
Descripción

SELF-REPORTED_ANCESTRY

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0680043
UMLS CUI [1,2]
C0681906
Age of onset of symptoms, converted to years (e.g. 1 month => 0.08333 years), rounded to at most three decimal places.
Descripción

AGE_OF_ONSET

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C3175531
Flag denoting if the age of onset is uncertain
Descripción

AGE_OF_ONSET_UNCERTAIN

Tipo de datos

text

Unidades de medida
  • Integer
Alias
UMLS CUI [1,1]
C3175531
UMLS CUI [1,2]
C0087130
Age at first biochemical/genetic test for mitochondrial disease. Age from medical record converted to years (e.g. 1 month => 0.08333 years)
Descripción

AGE_OF_MITO_DX

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C0751651
UMLS CUI [1,2]
C0430027
UMLS CUI [1,3]
C0205435
UMLS CUI [1,4]
C0001779
UMLS CUI [2,1]
C0751651
UMLS CUI [2,2]
C1320549
UMLS CUI [2,3]
C0205435
UMLS CUI [2,4]
C0001779
Status of OXPHOS disease diagnosis based on Bernier diagnostic criteria
Descripción

BERNIER_CRITERIA

Tipo de datos

text

Unidades de medida
  • String
Alias
UMLS CUI [1,1]
C0030013
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0449438
UMLS CUI [1,4]
C0679228
Score of OXPHOS disease diagnosis based on Morava diagnostic criteria
Descripción

MORAVA_SCORE

Tipo de datos

text

Unidades de medida
  • Integer
Alias
UMLS CUI [1,1]
C0030013
UMLS CUI [1,2]
C0012634
UMLS CUI [1,3]
C0449820
UMLS CUI [1,4]
C0679228
First-degree relative with phenotype highly similar to proband
Descripción

FAMILY_HISTORY

Tipo de datos

text

Unidades de medida
  • String
Alias
UMLS CUI [1,1]
C1517194
UMLS CUI [1,2]
C0031437
UMLS CUI [1,3]
C2348205
UMLS CUI [1,4]
C1948021
Consanguinity reported in medical history
Descripción

CONSANGUINITY

Tipo de datos

text

Unidades de medida
  • String
Alias
UMLS CUI [1,1]
C0262926
UMLS CUI [1,2]
C0009789
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Similar models

The dataset provides diagnostic (Bernier and Morava criteria) and sociodemographic, including age of onset, information. For the current version (.v2) data of several phenotype variables have been added, including information about clinical phenotypes observed among study participants.

6 formularios
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht002138
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Deidentified Subject's ID
text
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
Item
Design number of the hybrid selection reagents
text
C0034760 (UMLS CUI [1,1])
C4724475 (UMLS CUI [1,2])
HYBRID_SELECTION_DESIGN
Code List
Design number of the hybrid selection reagents
CL Item
Design with baits to mtDNA and 1560 nuclear gene loci (coding and 5' UTR exons) (1)
C4724475 (UMLS CUI [1,1])
C0015295 (UMLS CUI [1,2])
C0009219 (UMLS CUI [1,3])
C0015295 (UMLS CUI [1,4])
C0009219 (UMLS CUI [1,5])
C1518422 (UMLS CUI [1,6])
C0012929 (UMLS CUI [1,7])
CL Item
Design with baits to mtDNA and 1605 nuclear gene loci (coding exons only) (2)
C4724475 (UMLS CUI [1,1])
C0015295 (UMLS CUI [1,2])
C0009219 (UMLS CUI [1,3])
C0012929 (UMLS CUI [1,4])
Item
Gender of participant
text
C0079399 (UMLS CUI [1,1])
GENDER
Code List
Gender of participant
CL Item
Female (F)
C0086287 (UMLS CUI [1,1])
CL Item
Male (M)
C0086582 (UMLS CUI [1,1])
Item
Description of patient phenotype and clinical history
text
C5204342 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
CLINICAL_DESCRIPTION
Code List
Description of patient phenotype and clinical history
CL Item
not applicable (na)
SELF-REPORTED_ANCESTRY
Item
Self-reported ancestry
text
C0680043 (UMLS CUI [1,1])
C0681906 (UMLS CUI [1,2])
Item
Age of onset of symptoms, converted to years (e.g. 1 month => 0.08333 years), rounded to at most three decimal places.
text
C3175531 (UMLS CUI [1,1])
AGE_OF_ONSET
Code List
Age of onset of symptoms, converted to years (e.g. 1 month => 0.08333 years), rounded to at most three decimal places.
CL Item
Not recorded (-1)
Item
Flag denoting if the age of onset is uncertain
text
C3175531 (UMLS CUI [1,1])
C0087130 (UMLS CUI [1,2])
AGE_OF_ONSET_UNCERTAIN
Code List
Flag denoting if the age of onset is uncertain
CL Item
No flag (0)
CL Item
Listed age is upper bound (1)
CL Item
Listed age is approximate (2)
Item
Age at first biochemical/genetic test for mitochondrial disease. Age from medical record converted to years (e.g. 1 month => 0.08333 years)
text
C0751651 (UMLS CUI [1,1])
C0430027 (UMLS CUI [1,2])
C0205435 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
C0751651 (UMLS CUI [2,1])
C1320549 (UMLS CUI [2,2])
C0205435 (UMLS CUI [2,3])
C0001779 (UMLS CUI [2,4])
AGE_OF_MITO_DX
Code List
Age at first biochemical/genetic test for mitochondrial disease. Age from medical record converted to years (e.g. 1 month => 0.08333 years)
CL Item
Not recorded (-1)
Item
Status of OXPHOS disease diagnosis based on Bernier diagnostic criteria
text
C0030013 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0449438 (UMLS CUI [1,3])
C0679228 (UMLS CUI [1,4])
BERNIER_CRITERIA
Code List
Status of OXPHOS disease diagnosis based on Bernier diagnostic criteria
CL Item
definite (definite)
CL Item
probable (probable)
CL Item
possible (possible)
CL Item
unlikely (unlikely)
Item
Score of OXPHOS disease diagnosis based on Morava diagnostic criteria
text
C0030013 (UMLS CUI [1,1])
C0012634 (UMLS CUI [1,2])
C0449820 (UMLS CUI [1,3])
C0679228 (UMLS CUI [1,4])
MORAVA_SCORE
Code List
Score of OXPHOS disease diagnosis based on Morava diagnostic criteria
CL Item
Not recorded (-1)
Item
First-degree relative with phenotype highly similar to proband
text
C1517194 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
FAMILY_HISTORY
Code List
First-degree relative with phenotype highly similar to proband
CL Item
Patient has mother with similar symptoms; or patient is female with an affected child. (maternal)
C0026591 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
C1948021 (UMLS CUI [2,1])
C0392760 (UMLS CUI [2,2])
C0680063 (UMLS CUI [2,3])
CL Item
maternal (possible) (maternal (possible))
C0026591 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
C0332149 (UMLS CUI [1,5])
CL Item
not recorded (not recorded)
C0332127 (UMLS CUI [1,1])
C1517194 (UMLS CUI [1,2])
C0031437 (UMLS CUI [1,3])
C2348205 (UMLS CUI [1,4])
C1948021 (UMLS CUI [1,5])
CL Item
none (none)
C1517194 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
C1518422 (UMLS CUI [1,5])
CL Item
Patient has sibling with similar symptoms (sibling)
C0037047 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
C2348205 (UMLS CUI [1,3])
C1948021 (UMLS CUI [1,4])
Item
Consanguinity reported in medical history
text
C0262926 (UMLS CUI [1,1])
C0009789 (UMLS CUI [1,2])
CONSANGUINITY
Code List
Consanguinity reported in medical history
CL Item
no (no)
CL Item
not recorded (not recorded)
CL Item
possible (possible)
CL Item
yes (yes)
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