Table 4.
Ranking and frequency of diagnoses, by patients potentially with rare diseases, by type of encounter, in the combined administrative and clinical datasets; South Carolina, 2009–2014*
| Spina Bifida (n) | Muscular Dystrophy (n) | Fragile X (n) | |
|---|---|---|---|
| Emergency Department | |||
| 1 | Chronic ulcer of skin (1103) | General symptoms (238) | General symptoms (36) |
| 2 | Symptoms involving head and neck (722) | Symptoms involving respiratory system / chest(215) | Acute upper respiratory infections of multiple sites (32) |
| 3 | Other disorders of urethra and urinary tract (682) | Other symptoms involving abdomen and pelvis (184) | Attention to artificial openings (29) |
| 4 | Migraine (646) | Other disorders of urethra and urinary tract (180) | Epilepsy and recurrent seizures (23) |
| 5 | Other symptoms involving abdomen / pelvis (497) | Symptoms involving digestive system (172) | Other congenital anomalies of upper alimentary tract (22) |
| 6 | Symptoms involving respiratory system / chest (457) | Schizophrenic disorders (140) | Diseases of hard tissues of teeth (20) |
| 7 | Other and unspecified disorders of back (446) | Other and unspecified disorders of back (126) | Other symptoms involving abdomen and pelvis (19) |
| 8 | General symptoms (403) | Diabetes mellitus (110) | Acute pharyngitis (16) |
| 9 | Symptoms involving digestive system (308) | Pneumonia, organism unspecified (109) | Diseases of esophagus (16) |
| 10 | Other disorders of bladder (339) | Chronic ulcer of skin (106) | Cellulitis and abscess of face (16) |
| Inpatient† | |||
| 1 | Complications peculiar to certain specified procedures (212) | Care involving use of rehabilitation procedures (79) | |
| 2 | Chronic ulcer of skin (125) | Other diseases of lung (54) | |
| 3 | Other disorders of urethra and urinary tract (123) | Pneumonia, organism unspecified (52) | |
| 4 | Spina bifida (119) | Single liveborn (42) | |
| 5 | Other conditions of brain (100) | General symptoms (37) | |
| 6 | Single liveborn (98) | Muscular dystrophies and other myopathies (35) | |
| 7 | Other congenital anomalies of nervous system (84) | Other disorders of urethra and urinary tract (32) | |
| 8 | Other cellulitis and abscess (82) | Symptoms involving respiratory system / chest(28) | |
| 9 | Septicemia (73) | Complications peculiar to certain procedures (27) | |
| 10 | General symptoms (72) | Other cellulitis and abscess (26) | |
*
Diagnostic categories using ICD-9 codes and the Clinical Classification Software (CCS) system developed by the Healthcare Cost and Utilization Project: http://www.hcup-us.aheq.gov/toolssoftware/ccs/ccs.jsp.
†
Inpatient diagnoses are not displayed for Fragile X due to small cell sizes, to ensure privacy