Inglese

This subject phenotypes data table includes subject's affection status for developmental delay and/or intellectual diasbility, age, height, weight, race, ethnic groups, and the absence and presence of the phenotypes: ataxia, auditory, autism spectrum disorder, brain malformation, congenital heart malformation, craniofacial, facial dysmorphism, failure to thrive, gastrointestinal, growth retardation, hypertonia, hypotonia, intellectual disability (moderate), intellectual disability (severe), macrocephaly, microcephaly, muscle weakness, opthalmologic, seizures, skeletal/limb abnormalities, speech delay, and stereotypic behaviors.

6 moduli  
pht005486
Descrizione

pht005486

Alias
UMLS CUI [1,1]
C0031437
UMLS CUI [1,2]
C2707520
De-identified Subject ID
Descrizione

SUBJECT_ID

Tipo di dati

string

Alias
UMLS CUI [1,1]
C4684638
UMLS CUI [1,2]
C2348585
Subject's age at end of study
Descrizione

AGE

Tipo di dati

text

Unità di misura
  • years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C2983670
years
Subject's height at the time of enrollment
Descrizione

HEIGHT

Tipo di dati

text

Unità di misura
  • inches
Alias
UMLS CUI [1,1]
C0005890
UMLS CUI [1,2]
C1516879
inches
Subject's weight at the time of enrollment
Descrizione

WEIGHT

Tipo di dati

text

Unità di misura
  • pounds
Alias
UMLS CUI [1,1]
C0005910
UMLS CUI [1,2]
C1516879
pounds
Racial group with which the subject identifies
Descrizione

RACE

Tipo di dati

string

Alias
UMLS CUI [1,1]
C0034510
Ethnic group with which the subject identifies
Descrizione

ETHNIC_GROUP

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0015031
Phenotype of proband: Ataxia
Descrizione

Ataxia

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0004134
Phenotype of proband: Auditory
Descrizione

Auditory

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0439825
Phenotype of proband: Autism spectrum disorder
Descrizione

Autism spectrum disorder

Tipo di dati

text

Alias
UMLS CUI [1,1]
C1510586
Phenotype of proband: Brain malformation
Descrizione

Brain malformation

Tipo di dati

text

Alias
UMLS CUI [1,1]
C4021085
Phenotype of proband: Congenital heart malformation
Descrizione

Congenital heart malformation

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3649636
Phenotype of proband: Craniofacial
Descrizione

Craniofacial

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0596392
Phenotype of proband: Facial dysmorphism
Descrizione

Facial dysmorphism

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0424503
Phenotype of proband: Failure to thrive
Descrizione

Failure to thrive

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0015544
Phenotype of proband: Gastrointestinal
Descrizione

Gastrointestinal

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0521362
Phenotype of proband: Growth retardation
Descrizione

Growth retardation

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0151686
Phenotype of proband: Hypertonia
Descrizione

Hypertonia

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0020538
Phenotype of proband: Hypotonia
Descrizione

Hypotonia

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0020649
Phenotype of proband: Intellectual disability (moderate)
Descrizione

Intellectual disability (moderate)

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3714756
UMLS CUI [1,2]
C0205081
Phenotype of proband: Intellectual disability (severe)
Descrizione

Intellectual disability (severe)

Tipo di dati

text

Alias
UMLS CUI [1,1]
C3714756
UMLS CUI [1,2]
C0205082
Phenotype of proband: Macrocephaly
Descrizione

Macrocephaly

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0221355
Phenotype of proband: Microcephaly
Descrizione

Microcephaly

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0025958
Phenotype of proband: Muscle weakness
Descrizione

Muscle weakness

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0151786
Phenotype of proband: Opthalmologic
Descrizione

Opthalmologic

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0205481
Phenotype of proband: Seizures
Descrizione

Seizures

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0036572
Phenotype of proband: Skeletal/limb abnormalities
Descrizione

Skeletal/limb abnormalities

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0037253
UMLS CUI [1,2]
C1704258
Phenotype of proband: Speech delay
Descrizione

Speech delay

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0037817
UMLS CUI [1,2]
C0424605
Phenotype of proband: Stereotypic behaviors
Descrizione

Stereotypic behaviors

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0038271
Developmental delay and/or intellectual disability
Descrizione

AFFECTION_STATUS

Tipo di dati

text

Alias
UMLS CUI [1,1]
C0424605
UMLS CUI [1,2]
C3714756
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Similar models

This subject phenotypes data table includes subject's affection status for developmental delay and/or intellectual diasbility, age, height, weight, race, ethnic groups, and the absence and presence of the phenotypes: ataxia, auditory, autism spectrum disorder, brain malformation, congenital heart malformation, craniofacial, facial dysmorphism, failure to thrive, gastrointestinal, growth retardation, hypertonia, hypotonia, intellectual disability (moderate), intellectual disability (severe), macrocephaly, microcephaly, muscle weakness, opthalmologic, seizures, skeletal/limb abnormalities, speech delay, and stereotypic behaviors.

6 moduli
Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
pht005486
C0031437 (UMLS CUI [1,1])
C2707520 (UMLS CUI [1,2])
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
AGE
Item
Subject's age at end of study
text
C0001779 (UMLS CUI [1,1])
C2983670 (UMLS CUI [1,2])
HEIGHT
Item
Subject's height at the time of enrollment
text
C0005890 (UMLS CUI [1,1])
C1516879 (UMLS CUI [1,2])
WEIGHT
Item
Subject's weight at the time of enrollment
text
C0005910 (UMLS CUI [1,1])
C1516879 (UMLS CUI [1,2])
RACE
Item
Racial group with which the subject identifies
string
C0034510 (UMLS CUI [1,1])
Item
Ethnic group with which the subject identifies
text
C0015031 (UMLS CUI [1,1])
ETHNIC_GROUP
Code List
Ethnic group with which the subject identifies
CL Item
Not Hispanic/Latino (1)
CL Item
Hispanic/Latino (2)
Item
Phenotype of proband: Ataxia
text
C0004134 (UMLS CUI [1,1])
Ataxia
Code List
Phenotype of proband: Ataxia
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Auditory
text
C0439825 (UMLS CUI [1,1])
Auditory
Code List
Phenotype of proband: Auditory
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Autism spectrum disorder
text
C1510586 (UMLS CUI [1,1])
Autism spectrum disorder
Code List
Phenotype of proband: Autism spectrum disorder
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Brain malformation
text
C4021085 (UMLS CUI [1,1])
Brain malformation
Code List
Phenotype of proband: Brain malformation
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Congenital heart malformation
text
C3649636 (UMLS CUI [1,1])
Congenital heart malformation
Code List
Phenotype of proband: Congenital heart malformation
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Craniofacial
text
C0596392 (UMLS CUI [1,1])
Craniofacial
Code List
Phenotype of proband: Craniofacial
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Facial dysmorphism
text
C0424503 (UMLS CUI [1,1])
Facial dysmorphism
Code List
Phenotype of proband: Facial dysmorphism
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Failure to thrive
text
C0015544 (UMLS CUI [1,1])
Failure to thrive
Code List
Phenotype of proband: Failure to thrive
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Gastrointestinal
text
C0521362 (UMLS CUI [1,1])
Gastrointestinal
Code List
Phenotype of proband: Gastrointestinal
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Growth retardation
text
C0151686 (UMLS CUI [1,1])
Growth retardation
Code List
Phenotype of proband: Growth retardation
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Hypertonia
text
C0020538 (UMLS CUI [1,1])
Hypertonia
Code List
Phenotype of proband: Hypertonia
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Hypotonia
text
C0020649 (UMLS CUI [1,1])
Hypotonia
Code List
Phenotype of proband: Hypotonia
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Intellectual disability (moderate)
text
C3714756 (UMLS CUI [1,1])
C0205081 (UMLS CUI [1,2])
Intellectual disability (moderate)
Code List
Phenotype of proband: Intellectual disability (moderate)
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Intellectual disability (severe)
text
C3714756 (UMLS CUI [1,1])
C0205082 (UMLS CUI [1,2])
Intellectual disability (severe)
Code List
Phenotype of proband: Intellectual disability (severe)
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Macrocephaly
text
C0221355 (UMLS CUI [1,1])
Macrocephaly
Code List
Phenotype of proband: Macrocephaly
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Microcephaly
text
C0025958 (UMLS CUI [1,1])
Microcephaly
Code List
Phenotype of proband: Microcephaly
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Muscle weakness
text
C0151786 (UMLS CUI [1,1])
Muscle weakness
Code List
Phenotype of proband: Muscle weakness
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Opthalmologic
text
C0205481 (UMLS CUI [1,1])
Opthalmologic
Code List
Phenotype of proband: Opthalmologic
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Seizures
text
C0036572 (UMLS CUI [1,1])
Seizures
Code List
Phenotype of proband: Seizures
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Skeletal/limb abnormalities
text
C0037253 (UMLS CUI [1,1])
C1704258 (UMLS CUI [1,2])
Skeletal/limb abnormalities
Code List
Phenotype of proband: Skeletal/limb abnormalities
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Speech delay
text
C0037817 (UMLS CUI [1,1])
C0424605 (UMLS CUI [1,2])
Speech delay
Code List
Phenotype of proband: Speech delay
CL Item
Absent (0)
CL Item
Present (1)
Item
Phenotype of proband: Stereotypic behaviors
text
C0038271 (UMLS CUI [1,1])
Stereotypic behaviors
Code List
Phenotype of proband: Stereotypic behaviors
CL Item
Absent (0)
CL Item
Present (1)
Item
Developmental delay and/or intellectual disability
text
C0424605 (UMLS CUI [1,1])
C3714756 (UMLS CUI [1,2])
AFFECTION_STATUS
Code List
Developmental delay and/or intellectual disability
CL Item
Case (1)
C3274647 (UMLS CUI [1,1])
CL Item
Control (2)
C3274648 (UMLS CUI [1,1])
CL Item
Other (3)
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