Table 1.

Percentage of people who have suffered diagnostic delays in Spain, according to type of RD (classified according to the organ or system mainly affected), along with examples of specific RDs or RD groups represented by more than 30 cases

Type of RD	RD or RD group	ICD10	ORPHA code	n		Diagnostic delay (%)
				Total	Men–Women	Total (%)	Men–Women (%)
Diseases of the nervous system	Total	G00–G99		822	375–447	64.2	63.2–65.1
	Tarlov cyst	G58.9	65, 250	128	14–114	57.8	64.3–57.0
	Muscular dystrophies	G71.0	98, 473*	90	52–38	67.8	59.6–78.9
	Hereditary ataxias	G11	183, 518*	74	40–34	63.5	67.5–58.8
	Post-poliomyelitis syndrome	G14.0	2942	56	30–26	83.9	80.0–88.5
	Hereditary spastic paraplegia	G11.4	685*	53	33–20	88.7	84.8–95.0
	Amyotrophic lateral sclerosis	G12.2	803	36	22–14	52.8	59.1–42.9
	Myasthenia gravis	G70.0	589	35	15–20	34.3	20.0–45.0
Congenital malformations, deformations and chromosomal abnormalities	Total	Q00–Q99		700	308–392	48.4	45.8–50.5
	Arnold-Chiari malformation	Q07.0	1136,  268, 882	60	19–41	65.0	52.6–70.7
	Epidermolysis bullosa	Q81	304*	38	20–18	44.7	40.0–50.0
Diseases of the eye and adnexa	Total	H00–H59		668	349–319	62.9	57.6–68.7
	Retinitis pigmentosa	H35.5	791	384	185–199	65.1	61.1–68.8
	Stargardt disease	H35.5	827	72	35–37	56.9	48.6–64.9
	Usher syndrome	H35.5	886	55	32–23	76.4	71.9–82.6
	Cone-rod dystrophy	H35.5	1872	30	16–14	70.0	68.8–71.4
Endocrine, nutritional and metabolic diseases	Total	E00–E90		267	131–136	55.4	48.9–61.8
Diseases of the musculoskeletal system and connective tissue	Total	M00–M99		245	76–169	53.1	42.1–58.0
	Systemic sclerosis	M34	801*	48	10–38	56.3	70.0–52.6
	Behçet’s disease	M35.2	117	31	9–22	71.0	55.6–77.3
	Sjögren-Larsson syndrome	M35.0	816	30	3–27	73.3	33.3–77.8
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism	Total	D50–D89		235	96–139	44.7	41.7–46.8
	Hereditary angioedema	D84.1	91, 378*	108	40–68	55.6	47.5–60.3
	Sarcoidosis	D86	797	50	25–25	26.0	28.0–24.0
Diseases of the circulatory system	Total	I00–I99		82	10–72	51.2	30.0–54.2
	Lymphangioleiomyomatosis	I89.8	538	46	**− 46	56.5	**− 56.5
Mental and behavioural disorders	Total	F00–F99		77	38–39	78.0	76.0–79.0
Neoplasms	Total	C00–D48		65	27–38	35.0	37.0–34.0
Diseases of the genitourinary system	Total	N00–N99		43	5–38	67.0	60.0–68.0
Diseases of the skin and subcutaneous tissue	Total	L00–L99		30	9–21	53.0	67.0–48.0
Total				3304	1454-1850	56.4	53.4-58.8

*Group of disorders

**RDs that mainly affect women