Endocrine-Cerebroosteodysplasia
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.900 |
None |
1.000 |
6 |
2
|
2009 |
2018 |
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
|
phenotype |
|
Finding
|
1
|
5
|
0.400 |
None |
1.000 |
1 |
5
|
2018 |
2018 |
Juvenile Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
74
|
46
|
0.320 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Mesomelia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
27
|
4
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Rhizomelia
|
disease |
|
Congenital Abnormality
|
57
|
6
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2346
|
222
|
0.300 |
None |
|
0 |
|
|
|
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
|
disease |
|
Disease or Syndrome
|
14
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Short Rib-Polydactyly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
13
|
0.120 |
None |
1.000 |
2 |
1
|
2016 |
2018 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Barrel chest
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
18
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebellum
|
group |
Nervous System Diseases
|
Finding
|
55
|
11
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Ambiguous Genitalia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
109
|
14
|
0.100 |
None |
|
0 |
|
|
|
Malar flattening
|
disease |
|
Anatomical Abnormality
|
190
|
12
|
0.100 |
None |
|
0 |
|
|
|
Sandal gap
|
phenotype |
|
Finding
|
62
|
6
|
0.100 |
None |
|
0 |
|
|
|
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.100 |
None |
|
0 |
|
|
|
Adrenal hypoplasia
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Small penis
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Morning myoclonic jerks
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|