C2047886 |
(Idiopathic) normal pressure hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
|
14 |
0 |
C0865440 |
(non-specific) purulent meningitis
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
6 |
0 |
C4025774 |
1-3 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
1 |
C1861357 |
1-5 finger complete cutaneous syndactyly
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
C4023728 |
1-5 finger syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
3 |
1 |
C4021235 |
1-5 toe syndactyly
|
disease |
|
Congenital Abnormality
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
1 |
0 |
C4476857 |
1-minute APGAR score of 0
|
phenotype |
|
Finding
|
|
Abnormality of prenatal development or birth
|
1 |
0 |
C4476858 |
1-minute APGAR score of 1
|
phenotype |
|
Finding
|
|
Abnormality of prenatal development or birth
|
1 |
0 |
C1839731 |
11 pairs of ribs
|
phenotype |
|
Finding
|
|
Abnormality of the skeletal system
|
20 |
3 |
C3669121 |
11-Beta-hydroxylase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
10 |
16 |
C4329210 |
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of anatomical entity
|
|
1 |
0 |
C4755260 |
12p12.1 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4305140 |
12q14 microdeletion syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
2 |
0 |
C4749855 |
14q11.2 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4305240 |
14q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C4749920 |
15q overgrowth syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
|
|
3 |
0 |
C3697269 |
15q24 Microdeletion
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
genetic disease
|
|
5 |
0 |
C4304594 |
16q24.3 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C0202075 |
17 Hydroxyprogesterone measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
7 |
19 |
C0852698 |
17,20-desmolase deficiency
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |
C3277849 |
17,20-Lyase Deficiency, Isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
genetic disease; disease of metabolism
|
|
1 |
0 |
C4329212 |
17-Alpha-Hydroxylase/17,20 Lyase Deficiency
|
disease |
|
Disease or Syndrome
|
|
|
4 |
8 |
C0268296 |
17-Hydroxysteroid Dehydrogenase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
|
|
5 |
17 |
C3661485 |
17p11.2 Monosomy
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Cell or Molecular Dysfunction
|
|
|
1 |
0 |
C4518822 |
17q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
|
|
1 |
0 |