10.09.69.17

.17 Table of Rare and Expensive Disease Diagnosis.

ICD10

ICD 10 Description

Age Limit

B20

Human immunodeficiency virus (HIV) disease

0—20

C96.0

Multifocal and multisystemic Langerhans-cell histiocytosis

0—64

C96.5

Multifocal and unisystemic Langerhans-cell histiocytosis

0—64

C96.6

Unifocal Langerhans-cell histiocytosis

0—64

D61.01

Constitutional (pure) red blood cell aplasia

0—20

D61.09

Other constitutional aplastic anemia

0—20

D66

Hereditary factor VIII deficiency

0—64

D67

Hereditary factor IX deficiency

0—64

D68.00

Von Willebrand disease, unspecified

0—64

D68.01

Von Willebrand disease, type 1

0—64

D68.020

Von Willebrand disease, type 2A

0—64

D68.021

Von Willebrand disease, type 2B

0—64

D68.022

Von Willebrand disease, type 2M

0—64

D68.023

Von Willebrand disease, type 2N

0—64

D68.029

Von Willebrand disease, type 2, unspecified

0—64

D68.03

Von Willebrand disease, type 3

0—64

D68.04

Acquired von Willebrand disease

0—64

D68.09

Other von Willebrand disease

0—64

D68.1

Hereditary factor XI deficiency

0—64

D68.2

Hereditary deficiency of other clotting factors

0—64

E70.0

Classical phenylketonuria

0—20

E70.1

Other hyperphenylalaninemias

0—20

E70.20

Disorder of tyrosine metabolism, unspecified

0—20

E70.21

Tyrosinemia

0—20

E70.29

Other disorders of tyrosine metabolism

0—20

E70.30

Albinism, unspecified

0—20

E70.40

Disorders of histidine metabolism, unspecified

0—20

E70.41

Histidinemia

0—20

E70.49

Other disorders of histidine metabolism

0—20

E70.5

Disorders of tryptophan metabolism

0—20

E70.81

Aromatic L-amino acid decarboxylase deficiency

0—20

E70.89

Other disorders of amino-acid metabolism

0—20

E71.110

Isovaleric acidemia

0—20

E71.111

3-methylglutaconic aciduria

0—20

E71.118

Other branched-chain organic acidurias

0—20

E71.120

Methylmalonic acidemia

0—20

E71.121

Propionic acidemia

0—20

E71.128

Other disorders of propionate metabolism

0—20

E71.19

Other disorders of branched-chain amino-acid metabolism

0—20

E71.2

Disorder of branched-chain amino-acid metabolism, unspecified

0—20

E71.310

Long chain/very long chain acyl CoA dehydrogenase deficiency

0—64

E71.311

Medium chain acyl CoA dehydrogenase deficiency

0—64

E71.312

Short chain acyl CoA dehydrogenase deficiency

0—64

E71.313

Glutaric aciduria type II

0—64

E71.314

Muscle carnitine palmitoyltransferase deficiency

0—64

E71.318

Other disorders of fatty-acid oxidation

0—64

E71.32

Disorders of ketone metabolism

0—64

E71.39

Other disorders of fatty-acid metabolism

0—64

E71.41

Primary carnitine deficiency

0—64

E71.42

Carnitine deficiency due to inborn errors of metabolism

0—64

E71.50

Peroxisomal disorder, unspecified

0—64

E71.510

Zellweger syndrome

0—64

E71.511

Neonatal adrenoleukodystrophy

0—64

E71.518

Other disorders of peroxisome biogenesis

0—64

E71.520

Childhood cerebral X-linked adrenoleukodystrophy

0—64

E71.521

Adolescent X-linked adrenoleukodystrophy

0—64

E71.522

Adrenomyeloneuropathy

0—64

E71.528

Other X-linked adrenoleukodystrophy

0—64

E71.529

X-linked adrenoleukodystrophy, unspecified type

0—64

E71.53

Other group 2 peroxisomal disorders

0—64

E71.540

Rhizomelic chondrodysplasia punctata

0—64

E71.541

Zellweger-like syndrome

0—64

E71.542

Other group 3 peroxisomal disorders

0—64

E71.548

Other peroxisomal disorders

0—64

E72.01

Cystinuria

0—20

E72.02

Hartnup’s disease

0—20

E72.03

Lowe’s syndrome

0—20

E72.04

Cystinosis

0—20

E72.09

Other disorders of amino-acid transport

0—20

E72.11

Homocystinuria

0—20

E72.12

Methylenetetrahydrofolate reductase deficiency

0—20

E72.19

Other disorders of sulfur-bearing amino-acid metabolism

0—20

E72.20

Disorder of urea cycle metabolism, unspecified

0—20

E72.21

Argininemia

0—20

E72.22

Arginosuccinic aciduria

0—20

E72.23

Citrullinemia

0—20

E72.29

Other disorders of urea cycle metabolism

0—20

E72.3

Disorders of lysine and hydroxylysine metabolism

0—20

E72.4

Disorders of ornithine metabolism

0—20

E72.51

Non-ketotic hyperglycinemia

0—20

E72.52

Trimethylaminuria

0—20

E72.53

Primary hyperoxaluria

0—20

E72.59

Other disorders of glycine metabolism

0—20

E72.81

Disorders of gamma aminobutyric acid metabolism

0—20

E72.89

Other specified disorders of amino-acid metabolism

0—20

E74.00

Glycogen storage disease, unspecified

0—20

E74.01

von Gierke disease

0—20

E74.02

Pompe disease

0—20

E74.03

Cori disease

0—20

E74.04

McArdle disease

0—20

E74.09

Other glycogen storage disease

0—20

E74.12

Hereditary fructose intolerance

0—20

E74.19

Other disorders of fructose metabolism

0—20

E74.21

Galactosemia

0—20

E74.29

Other disorders of galactose metabolism

0—20

E74.4

Disorders of pyruvate metabolism and gluconeogenesis

0—20

E75.00

GM2 gangliosidosis, unspecified

0—20

E75.01

Sandhoff disease

0—20

E75.02

Tay-Sachs disease

0—20

E75.09

Other GM2 gangliosidosis

0—20

E75.10

Unspecified gangliosidosis

0—20

E75.11

Mucolipidosis IV

0—20

E75.19

Other gangliosidosis

0—20

E75.21

Fabry (-Anderson) disease

0—20

E75.22

Gaucher disease

0—20

E75.23

Krabbe disease

0—20

E75.242

Niemann-Pick disease type C

0—20

E75.243

Niemann-Pick disease type D

0—20

E75.244

Niemann-Pick disease type A/B

0—20

E75.25

Metachromatic leukodystrophy

0—20

E75.26

Sulfatase deficiency

0—20

E75.29

Other sphingolipidosis

0—20

E75.3

Sphingolipidosis, unspecified

0—20

E75.4

Neuronal ceroid lipofuscinosis

0—20

E75.5

Other lipid storage disorders

0—20

E76.01

Hurler’s syndrome

0—64

E76.02

Hurler-Scheie syndrome

0—64

E76.03

Scheie’s syndrome

0—64

E76.1

Mucopolysaccharidosis, type II

0—64

E76.210

Morquio A mucopolysaccharidoses

0—64

E76.211

Morquio B mucopolysaccharidoses

0—64

E76.219

Morquio mucopolysaccharidoses, unspecified

0—64

E76.22

Sanfilippo mucopolysaccharidoses

0—64

E76.29

Other mucopolysaccharidoses

0—64

E76.3

Mucopolysaccharidosis, unspecified

0—64

E76.8

Other disorders of glucosaminoglycan metabolism

0—64

E77.0

Defects in post-translational mod of lysosomal enzymes

0—20

E77.1

Defects in glycoprotein degradation

0—20

E77.8

Other disorders of glycoprotein metabolism

0—20

E79.1

Lesch-Nyhan syndrome

0—64

E79.2

Myoadenylate deaminase deficiency

0—64

E79.8

Other disorders of purine and pyrimidine metabolism

0—64

E79.9

Disorder of purine and pyrimidine metabolism, unspecified

0—64

E80.3

Defects of catalase and peroxidase

0—64

E84.0

Cystic fibrosis with pulmonary manifestations

0—64

E84.11

Meconium ileus in cystic fibrosis

0—64

E84.19

Cystic fibrosis with other intestinal manifestations

0—64

E84.8

Cystic fibrosis with other manifestations

0—64

E84.9

Cystic fibrosis, unspecified

0—64

E88.40

Mitochondrial metabolism disorder, unspecified

0—64

E88.41

MELAS syndrome

0—64

E88.42

MERRF syndrome

0—64

E88.49

Other mitochondrial metabolism disorders

0—64

E88.89

Other specified metabolic disorders

0—64

F84.2

Rett’s syndrome

0—20

G11.0

Congenital nonprogressive ataxia

0—20

G11.10

Early-onset cerebellar ataxia, unspecified

0—20

G11.11

Friedreich ataxia

0—20

G11.19

Other early-onset cerebellar ataxia

0—20

G11.2

Late-onset cerebellar ataxia

0—20

G11.3

Cerebellar ataxia with defective DNA repair

0—20

G11.4

Hereditary spastic paraplegia

0—20

G11.8

Other hereditary ataxias

0—20

G11.9

Hereditary ataxia, unspecified

0—20

G12.0

Infantile spinal muscular atrophy, type I (Werdnig-Hoffman)

0—20

G12.1

Other inherited spinal muscular atrophy

0—20

G12.21

Amyotrophic lateral sclerosis

0—20

G12.22

Progressive bulbar palsy

0—20

G12.29

Other motor neuron disease

0—20

G12.8

Other spinal muscular atrophies and related syndromes

0—20

G12.9

Spinal muscular atrophy, unspecified

0—20

G24.1

Genetic torsion dystonia

0—64

G24.8

Other dystonia

0—64

G25.3

Myoclonus

0—5

G25.9

Extrapyramidal and movement disorder, unspecified

0—20

G31.81

Alpers disease

0—20

G31.82

Leigh’s disease

0—20

G31.9

Degenerative disease of nervous system, unspecified

0—20

G32.81

Cerebellar ataxia in diseases classified elsewhere

0—20

G37.0

Diffuse sclerosis of central nervous system

0—64

G37.5

Concentric sclerosis (Balo) of central nervous system

0—64

G71.00

Muscular dystrophy, unspecified

0—64

G71.01

Duchenne or Becker muscular dystrophy

0—64

G71.02

Facioscapulohumeral muscular dystrophy

0—64

G71.031

Autosomal dominant limb girdle muscular dystrophy

0—64

G71.032

Autosomal recessive limb girdle muscular dystrophy due to calpain-3 dysfunction

0—64

G71.033

Limb girdle muscular dystrophy due to dysferlin dysfunction

0—64

G71.0340

Limb girdle muscular dystrophy due to sarcoglycan dysfunction, unspecified

0—64

G71.0341

Limb girdle muscular dystrophy due to alpha sarcoglycan dysfunction

0—64

G71.0342

Limb girdle muscular dystrophy due to beta sarcoglycan dysfunction

0—64

G71.0349

Limb girdle muscular dystrophy due to other sarcoglycan dysfunction

0—64

G71.035

Limb girdle muscular dystrophy due to anoctamin-5 dysfunction

0—64

G71.038

Other limb girdle muscular dystrophy

0—64

G71.039

Limb girdle muscular dystrophy, unspecified

0—64

G71.09

Other specified muscular dystrophies

0—64

G71.11

Myotonic muscular dystrophy

0—64

G71.20

Congenital myopathy, unspecified

0—64

G71.21

Nemaline myopathy

0—64

G71.220

Centronuclear myopathy

0—64

G71.228

Other centronuclear myopathy

0—64

G71.29

Other congenial myopathy

0—64

G80.0

Spastic quadriplegic cerebral palsy

0—64

G80.1

Spastic diplegic cerebral palsy

0—20

G80.3

Athetoid cerebral palsy

0—64

G82.50

Quadriplegia, unspecified

0—64

G82.51

Quadriplegia, C1-C4 complete

0—64

G82.52

Quadriplegia, C1-C4 incomplete

0—64

G82.53

Quadriplegia, C5-C7 complete

0—64

G82.54

Quadriplegia, C5-C7 incomplete

0—64

G91.0

Communicating hydrocephalus

0—20

G91.1

Obstructive hydrocephalus

0—20

I67.5

Moyamoya disease

0—64

K91.2

Postsurgical malabsorption, not elsewhere classified

0—20

N03.A

Chronic nephritic syndrome with C3 glomerulonephritis

0—20

N03.1

Chronic nephritic syndrome with focal and segmental glomerular lesions

0—20

N03.2

Chronic nephritic syndrome w diffuse membranous glomrlneph

0—20

N03.3

Chronic neph syndrome w diffuse mesangial prolif glomrlneph

0—20

N03.4

Chronic neph syndrome w diffuse endocaplry prolif glomrlneph

0—20

N03.5

Chronic nephritic syndrome w diffuse mesangiocap glomrlneph

0—20

N03.6

Chronic nephritic syndrome with dense deposit disease

0—20

N03.7

Chronic nephritic syndrome w diffuse crescentic glomrlneph

0—20

N03.8

Chronic nephritic syndrome with other morphologic changes

0—20

N03.9

Chronic nephritic syndrome with unspecified morphologic changes

0—20

N08

Glomerular disorders in diseases classified elsewhere

0—20

N18.1

Chronic kidney disease, stage 1

0—20

N18.2

Chronic kidney disease, stage 2 (mild)

0—20

N18.30

Chronic kidney disease, stage 3, unspecified

0—20

N18.31

Chronic kidney disease, stage 3a

0—20

N18.32

Chronic kidney disease, stage 3b

0—20

N18.4

Chronic kidney disease, stage 4 (severe)

0—20

N18.5

Chronic kidney disease, stage 5

0—20

N18.6

End stage renal disease

0—20

N18.9

Chronic kidney disease, unspecified

0—20

Q01.9

Encephalocele, unspecified

0—20

Q02

Microcephaly

0—20

Q03.0

Malformations of aqueduct of Sylvius

0—20

Q03.1

Atresia of foramina of Magendie and Luschka

0—20

Q03.8

Other congenital hydrocephalus

0—20

Q03.9

Congenital hydrocephalus, unspecified

0—20

Q04.3

Other reduction deformities of brain

0—20

Q04.5

Megalencephaly

0—20

Q04.6

Congenital cerebral cysts

0—20

Q04.8

Other specified congenital malformations of brain

0—20

Q05.0

Cervical spina bifida with hydrocephalus

0—64

Q05.1

Thoracic spina bifida with hydrocephalus

0—64

Q05.2

Lumbar spina bifida with hydrocephalus

0—64

Q05.3

Sacral spina bifida with hydrocephalus

0—64

Q05.4

Unspecified spina bifida with hydrocephalus

0—64

Q05.5

Cervical spina bifida without hydrocephalus

0—64

Q05.6

Thoracic spina bifida without hydrocephalus

0—64

Q05.7

Lumbar spina bifida without hydrocephalus

0—64

Q05.8

Sacral spina bifida without hydrocephalus

0—64

Q05.9

Spina bifida, unspecified

0—64

Q06.0

Amyelia

0—64

Q06.1

Hypoplasia and dysplasia of spinal cord

0—64

Q06.2

Diastematomyelia

0—64

Q06.3

Other congenital cauda equina malformations

0—64

Q06.4

Hydromyelia

0—64

Q06.8

Other specified congenital malformations of spinal cord

0—64

Q07.01

Arnold-Chiari syndrome with spina bifida

0—64

Q07.02

Arnold-Chiari syndrome with hydrocephalus

0—64

Q07.03

Arnold-Chiari syndrome with spina bifida and hydrocephalus

0—64

Q30.1

Agenesis and underdevelopment of nose, cleft or absent nose only

0—5

Q30.2

Fissured, notched and cleft nose, cleft or absent nose only

0—5

Q31.0

Web of larynx

0—20

Q31.8

Other congenital malformations of larynx, atresia or agenesis of larynx only

0—20

Q32.1

Other congenital malformations of trachea, atresia or agenesis of trachea only

0—20

Q32.4

Other congenital malformations of bronchus, atresia or agenesis of bronchus only

0—20

Q33.0

Congenital cystic lung

0—20

Q33.2

Sequestration of lung

0—20

Q33.3

Agenesis of lung

0—20

Q33.6

Congenital hypoplasia and dysplasia of lung

0—20

Q35.1

Cleft hard palate

0—20

Q35.3

Cleft soft palate

0—20

Q35.5

Cleft hard palate with cleft soft palate

0—20

Q35.9

Cleft palate, unspecified

0—20

Q37.0

Cleft hard palate with bilateral cleft lip

0—20

Q37.1

Cleft hard palate with unilateral cleft lip

0—20

Q37.2

Cleft soft palate with bilateral cleft lip

0—20

Q37.3

Cleft soft palate with unilateral cleft lip

0—20

Q37.4

Cleft hard and soft palate with bilateral cleft lip

0—20

Q37.5

Cleft hard and soft palate with unilateral cleft lip

0—20

Q37.8

Unspecified cleft palate with bilateral cleft lip

0—20

Q37.9

Unspecified cleft palate with unilateral cleft lip

0—20

Q39.0

Atresia of esophagus without fistula

0—3

Q39.1

Atresia of esophagus with tracheo-esophageal fistula

0—3

Q39.2

Congenital tracheo-esophageal fistula without atresia

0—3

Q39.3

Congenital stenosis and stricture of esophagus

0—3

Q39.4

Esophageal web

0—3

Q42.0

Congenital absence, atresia and stenosis of rectum with fistula

0—5

Q42.1

Congen absence, atresia and stenosis of rectum without fistula

0—5

Q42.2

Congenital absence, atresia and stenosis of anus with fistula

0—5

Q42.3

Congenital absence, atresia and stenosis of anus without fistula

0—5

Q42.8

Congenital absence, atresia and stenosis of other parts of large intestine

0—5

Q42.9

Congenital absence, atresia and stenosis of large intestine, part unspecified

0—5

Q43.1

Hirschsprung’s disease

0—15

Q44.2

Atresia of bile ducts

0—20

Q44.3

Congenital stenosis and stricture of bile ducts

0—20

Q44.6

Cystic disease of liver

0—20

Q45.0

Agenesis, aplasia and hypoplasia of pancreas

0—5

Q45.1

Annular pancreas

0—5

Q45.3

Other congenital malformations of pancreas and pancreatic duct

0—5

Q45.8

Other specified congenital malformations of digestive system

0—10

Q60.1

Renal agenesis, bilateral

0—20

Q60.4

Renal hypoplasia, bilateral

0—20

Q60.6

Potter’s syndrome, with bilateral renal agenesis only

0—20

Q61.02

Congenital multiple renal cysts, bilateral only

0—20

Q61.19

Other polycystic kidney, infantile type, bilateral only

0—20

Q61.2

Polycystic kidney, adult type, bilateral only

0—20

Q61.3

Polycystic kidney, unspecified, bilateral only

0—20

Q61.4

Renal dysplasia, bilateral only

0—20

Q61.5

Medullary cystic kidney, bilateral only

0—20

Q61.9

Cystic kidney disease, unspecified, bilateral only

0—20

Q64.10

Exstrophy of urinary bladder, unspecified

0—20

Q64.12

Cloacal extrophy of urinary bladder

0—20

Q64.19

Other exstrophy of urinary bladder

0—20

Q75.0

Craniosynostosis

0—20

Q75.1

Craniofacial dysostosis

0—20

Q75.2

Hypertelorism

0—20

Q75.4

Mandibulofacial dysostosis

0—20

Q75.5

Oculomandibular dysostosis

0—20

Q75.8

Other congenital malformations of skull and face bones

0—20

Q77.4

Achondroplasia

0—1

Q77.6

Chondroectodermal dysplasia

0—1

Q77.8

Other osteochondrodysplasia with defects of growth of tubular bones and spine

0—1

Q78.0

Osteogenesis imperfecta

0—20

Q78.1

Polyostotic fibrous dysplasia

0—1

Q78.2

Osteopetrosis

0—1

Q78.3

Progressive diaphyseal dysplasia

0—1

Q78.4

Enchondromatosis

0—1

Q78.6

Multiple congenital exostoses

0—1

Q78.8

Other specified osteochondrodysplasias

0—1

Q78.9

Osteochondrodysplasia, unspecified

0—1

Q79.0

Congenital diaphragmatic hernia

0—1

Q79.1

Other congenital malformations of diaphragm

0—1

Q79.2

Exomphalos

0—1

Q79.3

Gastroschisis

0—1

Q79.4

Prune belly syndrome

0—1

Q79.59

Other congenital malformations of abdominal wall

0—1

Q89.7

Multiple congenital malformations, not elsewhere classified

0—10

R75

Inconclusive laboratory evidence of HIV

0—12 months

Z21

Asymptomatic human immunodeficiency virus infection status

0—20

Z99.11

Dependence on respirator (ventilator) status

1—64

Z99.2

Dependence on renal dialysis

21—64