Disease staging: CliniCal anD CoDeD Criteria - HCUP

Clinical Criteria with Description, Diagnostic Findings and ICD-9-CM codes
DXCat Number: GEN02
MultiStage: No
DXCat Label: Klinefelter's Syndrome Specificity: A
Etiology: Genetic (or hereditary)
Stage Description Diagnostic findings ICD-9-CM Codes
1.01 Mosaic Klinefelter's syndrome Genotype: 46 XY, 47 XXY [cytogenetics report]
DX 7587;
OR genotype: 46 XX, 47 XXY [cytogenetics report]
OR genotype: 46 XXY, 48 XXYY [cytogenetics report]
OR genotype: 46 XY/47 XXY, 48 XXYY [cytogenetics report]
1.02 Klinefelter's syndrome Genotype: 47 XXY [cytogenetics report]
STAGE 1.01 + (DX 6111 OR GROUP
OR leukocyte RNA X-inactive specific transcriptase, XIST [PCR chemistry report]
MENT_RETARD);
OR small firm testis
AND gynecomastia
AND < 20 million sperm/ml [semen analysis report]
AND mental retardation:
1.03 Klinefelter's syndrome with three X
chromosomes
1.04 Klinefelter's syndrome with four X
chromosomes
1.05 Klinefelter's syndrome with five X
chromosomes
Genotype: 47 XXXY [cytogenetics report]
Genotype: 47 XXXXY [cytogenetics report]
Genotype: 47 XXXXXY [cytogenetics report]
2.01 with obesity Stage 1.01-1.05
AND obesity:
2.02 with hypothyroidism or hyperthyroidism Stage 1.01-2.01
AND hypothyroidism:
OR hyperthyroidism:
2.03 with diabetes mellitus Stage 1.01-2.02
AND diabetes mellitus:
2.04 with breast carcinoma Stage 1.01-2.03
AND carcinoma of the breast [operative/pathology report]
References:
New MI. Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). American Journal of Medicine. 1995;98(1A):2S-8S.
NO;
NO;
NO;
STAGE 1.01-1.02 + DXCAT NUT02;
STAGE 1.01-2.01 + (DXCAT END07
OR DXCAT END09);
STAGE 1.01-2.02 + (DXCAT END04
OR DXCAT END05);
STAGE 1.01-2.03 + (DXCAT GYN19
OR DXCAT MGS04);
Orth DN, Kovacs WJ, DeBold CR. The adrenal cortex. In: Wilson JD, Foster DW, eds. Williams Textbook of Endocrinology. 8th ed. Philadelphia, PA: WB Saunders; 1992:489-
620.
White PC. Inherited forms of mineralocorticoid hypertension. Hypertension. 1996;28(6):927-936.
Wilson JD, Griffin JE. Disorders of sexual differentiation. In: Fauci AS, Braunwald E, Isselbacher KJ, Wilson JD, Martin JB, Kasper DL, Hauser SL, Longo, DL, eds. Harrison’s
Principles of Internal Medicine. 14th ed. New York, NY: McGraw-Hill; 1998:2119-2131.
Thursday, January 07, 2010 9:21:40 AM
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