Bijlage I

Code

Title

1

Short Stature

1A

Primary growth failure

1A.1

Clinically defined syndromes

1A.1a

Syndromes classified elsewhere:

1A.1a.1

Achalasia-Addisonianism-Alacrima syndrome

1A.1a.2

Bloom syndrome

1A.1a.3

Cardiofaciocutaneous syndrome

1A.1a.4

Carpenter syndrome

1A.1a.5

CHARGE syndrome

1A.1a.6

Cohen syndrome

1A.1a.7

Costello syndrome

1A.1a.8

DiGeorge syndrome

1A.1a.9

Donohue syndrome

1A.1a.10

Down syndrome

1A.1a.11

Kabuki syndrome

1A.1a.12

LEOPARD syndrome

1A.1a.13

Maternal disomy chromosome 14

1A.1a.14

Mauriac syndrome

1A.1a.15

45,X/46,XY mixed gonadal dysgenesis

1A.1a.16

Neurofibromatosis type 1

1A.1a.17

Noonan syndrome

1A.1a.18

Prader-Willi syndrome

1A.1a.19

Rothmund-Thomson syndrome

1A.1a.20

Silver-Russell syndrome

1A.1a.21

Turner syndrome

1A.1a.22

Velocardiofacial syndrome

1A.1a.23

Werner syndrome

1A.1a.24

Williams-Beuren syndrome

1A.1a.25

Wolcott-Rallison syndrome

1A.1b

Syndromes characterized by short stature and dysmorphisms

1A.1b.1

3-M syndrome

1A.1b.2

Distal 18q deletion syndrome

1A.1b.3

Aarskog-Scott syndrome

1A.1b.4

Cockayne syndrome

1A.1b.5

Coffin-Lowry syndrome

1A.1b.6

Cornelia de Lange syndrome

1A.1b.7

Dubowitz syndrome

1A.1b.8

Floating Harbor syndrome

1A.1b.9

Kenny-Caffey syndrome

1A.1b.10

Langer-Giedion syndrome

1A.1b.11

Mulibrey nanism

1A.1b.12

Nijmegen breakage syndrome

1A.1b.13

Pallister-Hall syndrome

1A.1b.14

Robinow syndrome

1A.1b.15

Rubinstein-Taybi syndrome

1A.1b.16

Seckel syndrome

1A.1b.17

Smith-Magenis syndrome

1A.1b.18

Smith-Lemli-Opitz syndrome

1A.1b.19

X-linked mental retardation

1A.1y

Other syndromes associated with short stature, specified

1A.1z

Other syndromes associated with short stature, unspecified

1A.2

Small for gestational age with failure of catch-up growth

1A.2a

Disorders classified elsewhere:

1A.2a.1

IGF-1 deficiency

1A.2a.2

IGF-1 resistance

1A.2y

Due to known cause, specified

1A.2z

Idiopathic

1A.3

Skeletal dysplasias

1A.3a

FGFR3 achondrodysplasia group

1A.3a.1

Achondroplasia

1A.3a.2

Hypochondroplasia

1A.3a.88

Other disorder included in this group, specified

1A.3b

Type 2 collagenopathies

1A.3b.1

Spondyloepiphyseal dysplasia congenita

1A.3b.88

Other disorder included in this group, specified

1A.3c

Mesomelic and rhizo-mesomelic dysplasias

1A.3c.1

SHOX gene defects

1A.3c.1a

Non-syndromic SHOX defiency

1A.3c.1b

Leri-Weill syndrome

1A.3c.1c

Langer syndrome

1A.3c.88

Other disorder included in this group, specified

1A.3d

Dysostosis multiplex group

1A.3d.1

Mucopolysaccharidosis types IH, IS, II-VII

1A.3d.2

Mucolipidosis types II, III

1A.3d.88

Other disorders included in this group, specified

1A.3e

Osteogenesis imperfecta and dysplasias with decreased bone density

1A.3e.1

Osteogenesis imperfecta I-VI

1A.3e.88

Other disorders included in this group, specified

1A.3f

Abnormal dysplasias with defective mineralization group

1A.3f.1

Hypophosphatasia

1A.3f.2

Hypophosphatemic rickets

1A.3f.88

Other disorder included in this group, specified

1A.3y

Other skeletal dysplasia, specified

1A.3z

Other skeletal dysplasia, unspecified

1B

Secondary growth failure

1B.1

Insufficient nutrient intake

1B.2

Disorders in organ systems other than skeletal

1B.2a

Cardiac disorders

1B.2b

Pulmonary disorders

1B.2c

Liver disorders

1B.2d

Intestinal disorders

1B.2e

Renal tubular disorders

1B.2f

Chronic anemia

1B.2g

Multiorgan disorders

1B.2h

Muscular and neurological disorders

1B.2i

Connective tissue disorders

1B.2y

Disorder in other organ system, specified

1B.3

Growth hormone deficiency

1B.3a

Congenital growth hormone deficiency

1B.3a.0

Growth hormone deficiency associated with complex syndromes classified

 elsewhere:

1B.3a.0a

CHARGE syndrome

1B.3a.0b

Fanconi syndrome

1B.3a.0c

Rieger syndrome

1B.3a.0d

Kabuki make-up syndrome

1B.3a.0e

Pallister-Hall syndrome

1B.3a.1

Associated with other complex syndromes

1B.3a.2

Genetic defects associated with growth hormone deficiency

1B.3a.2a

HESX1 gene

1B.3a.2b

LHX3 gene

1B.3a.2c

LHX4 gene

1B.3a.2d

PROP1 gene

1B.3a.2e

POU1F1 gene

1B.3a.2f

GHRHR gene

1B.3a.2g

GH gene

1B.3a.2h

OTX2 gene

1B.3a.2i

GHSR gene

1B.3a.2y

Other genetic defect with growth hormone deficiency, specified

1B.3a.3

Growth hormone deficiency associated with pituitary, cerebral or facial mal-

formations

1B.3a.3a

Septo-optic dysplasia

1B.3a.3b

Solitary median maxillary incisor syndrome

1B.3a.3c

Empty sella syndrome

1B.3a.3d

Mid-line palateal cleft syndrome

1B.3a.3e

Arachnoid cyst

1B.3a.3f

Congenital hydrocephalus

1B.3a.3g

Hypoplastic anterior pituitary without other pituitary anomalies

1B.3a.3h

Hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary

1B.3a.3y

Growth hormone deficiency associated with other cerebral or facial mal-

formation, specified

1B.3a.4

Growth hormone deficiency associated with prenatal infection

1B.3a.5

Idiopathic growth hormone deficiency

1B.3a.5a

Classical idiopathic growth hormone deficiency

1B.3a.5b

Neurosecretory dysfunction

1B.3a.88

Growth hormone deficiency associated with other disorder, specified

1B.3b

Acquired growth hormone deficiency

1B.3b.1

Due to craniopharyngioma

1B.3b.2

Associated with other pituitary tumor

1B.3b.3

Associated with cranial tumor distant from the hypothalamic-pituitary area

1B.3b.4

Associated with tumor or malignancy outside the cranium

1B.3b.5

Due to head trauma

1B.3b.6

Due to central nervous system infection

1B.3b.7

Associated with granulomatous disease

1B.3b.8

Associated with vascular anomaly

1B.3b.88

Other cause of acquired growth hormone deficiency, specified

1B.3b.99

Other cause of acquired growth hormone deficiency, unspecified

1B.4

Other disorders of the growth hormone-IGF axis

1B.4a

Bio-inactive growth hormone

1B.4b

Abnormalities of the growth hormone receptor

1B.4c

Abnormalities of growth hormone signal transduction

1B.4d

Acid-labile subunit deficiency

1B.4e

IGF-1 deficiency

1B.4f

IGF-1 resistance

1B.4y

Other disorder of the growth hormone-IGF axis, specified

1B.4z

Other disorder of the growth hormone-IGF axis, unspecified

1B.5

Other endocrine disorders associated with short stature

1B.5a

Disorders classified elsewhere:

1B.5a.1

Cushing syndrome

1B.5a.2

Hypothyroidism

1B.5a.3

Leprechaunism

1B.5a.4

Poorly controlled diabetes mellitus

1B.5b

Short adult stature caused by accelerated bone maturation

1B.5b.1

Due to precocious puberty

1B.5b.2

Due to hyperthyroidism

1B.5b.3

Due to congenital adrenal hyperplasia

1B.5b.4

Due to exposure to exogenous estrogens or androgens

1B.5y

Other disorder causing short stature, specified

1B.5z

Other disorder causing short stature, unspecified

1B.6

Metabolic disorders

1B.6a

Disorders of calcium and phosphorus metabolism

1B.6b

Disorders of carbohydrate metabolism

1B.6c

Disorders of lipid metabolism

1B.6d

Disorders of protein metabolism

1B.6y

Other metabolic disorder, specified

1B.6z

Other metabolic disorder, unspecified

1B.7

Psychosocial disorders

1B.7a

Psychosocial deprivation

1B.7b

Anorexia nervosa

1B.7c

Depression

1B.7y

Other psychosocial disorder, specified

1B.8

Iatrogenic causes of short stature

1B.8a

Systemic glucocorticoid therapy

1B.8b

Local glucocorticoid therapy

1B.8c

Other medication

1B.8d

Treatment of childhood malignancy

1B.8d.1

Total body irradiation

1B.8d.2

Chemotherapy

1B.8y

Other iatrogenic cause, specified

1C

Idiopathic short stature

1C.1

Familial idiopathic short stature

1C.1a

With normal pubertal onset

1C.1b

With delayed pubertal onset

1C.1c

Onset of puberty not yet known

1C.1d

Onset of puberty unknown

1C.2

Non-familial idiopathic short stature

1C.2a

With normal pubertal onset

1C.2b

With delayed pubertal onset

1C.2c

Onset of puberty not yet known

1C.2d

Onset of puberty unknown