Bijlage II

Code

Title

2

Tall Stature

2A

Primary growth disorders

2A.1

Syndromes with sex chromosome anomaly, including aneuploidy

2A.1a

Klinefelter syndrome

2A.1b

47,XYY syndrome

2A.1c

47,XXX syndrome

2A.1d

Triple copy SHOX gene syndrome

2A.1e

Fragile X syndrome

2A.1f

Xq11.11 microdeletion

2A.1y

Other X or Y chromosome aneuploidy syndromes, specified

2A.1z

Other X or Y chromosome anomaly or rearrangement other than aneuploidy,

unspecified

2A.2

Syndromes with autosomal anomaly, including aneuploidy

2A.2a

Mosaic tetrasomy 9p

2A.2b

Chromosome 13del/q14.3q21.33 syndrome

2A.2c

Interstitial 13q deletion syndrome

2A.2d

Chromosome 15q25-qter partial trisomy syndrome

2A.2e

Chromosome 16p13.3 microduplication syndrome

2A.2f

Chromosome 19p13.13 syndrome

2A.2y

Other autosome aneuploidy, specified

2A.2z

Other autosome anomaly or rearrangement other than aneuploidy, specified

2A.3

Syndromes without known chromosomal anomaly

2A.3a

Metabolic disorders

2A.3a.1

Homocystinuria

2A.3a.2

Congenital generalized lipodystrophy

2A.3a.88

Other metabolic disorder, specified

2A.3b

Connective tissue disorders

2A.3b.1

Marfan syndrome

2A.3b.2

Marfan-like syndrome, not genetically confirmed

2A.3b.3

Ehlers-Danlos syndrome, type IV

2A.3b.88

Other connective tissue disorder, specified

2A.3b.99

Other connective tissue disorder, unspecified

2A.3c

Syndromes with symmetrical overgrowth

2A.3c.1

Bannayan-Riley-Ruvalcaba syndrome

2A.3c.2

Elejalde syndrome

2A.3c.3

Lujan-Fryns syndrome

2A.3c.4

Marshall Smith syndrome

2A.3c.5

Nevo syndrome

2A.3c.6

Phelan-Dermid syndrome

2A.3c.8

Sclerosteosis

2A.3c.9

Simpson-Golabi-Behmel syndrome

2A.3c.10

Small supernumerary chromosome

2A.3c.11

Sotos syndrome

2A.3c.12

Stickler syndrome

2A.3c.13

Weaver syndrome

2A.3c.88

Other symmetrical overgrowth syndrome, specified

2A.3c.99

Other symmetrical overgrowth syndrome, unspecified

2A.3d

Syndromes with partial or asymmetric overgrowth

2A.3d.1

Beckwith-Wiedemann syndrome

2A.3d.2

Klippel-Trenaunay-Weber syndrome

2A.3d.3

Proteus syndrome

2A.3d.88

Other partial or asymmetric overgrowth syndrome, specified

2A.3d.99

Other partial or asymmetric overgrowth syndrome, unspecified

2B

Secondary growth disorders

2B.1

Overgrowth associated with increased hormone secretion or action

2B.1a

Growth hormone excess

2B.1a.1

Growth hormone-producing adenoma

2B.1a.1a

Isolated

2B.1a.1b

As part of McCune-Albright syndrome

2B.1a.1c

As part of MEN1 syndrome

2B.1a.2

Growth hormone-releasing hormone excess

2B.1b

Activating mutation of IGF1R gene

2B.1c

Duplication of IGF1R gene

2B.1d

Hyperinsulinism

2B.1e

Hyperthyroidism

2B.1f

Sex steroid excess

2B.1f.1

Due to endogenous adrenal hormone excess

2B.1f.2

Due to endogenous gonadal hormone excess

2B.1f.3

Due to exogenous estrogens or androgens

2B.2

Overgrowth associated with decreased hormone secretion or action

2B.2a

Familial isolated glucocorticoid deficiency

2B.2b

Gonadotropin deficiency

2B.2c

Estrogen deficiency

2B.2c.1

Due to aromatase deficiency

2B.2c.2

Due to 17 alpha-hydroxylase deficiency

2B.2c.88

Other cause of estrogen deficiency, specified

2B.2c.99

Other cause of estrogen deficiency, unspecified

2B.2d

Estrogen receptor dysfunction

2B.3

Other secondary cause of tall stature

2B.3a

Obesity

2B.3y

Other secondary cause of tall stature, specified

2B.3z

Other secondary cause of tall stature, unspecified

2C

Idiopathic tall stature

2C.1

Familial idiopathic tall stature

2C.2

Non-familial idiopathic tall stature