Md. Code Regs. 10.09.69.17

Current through Register Vol. 51, No. 25, December 13, 2024
Section 10.09.69.17 - 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 aromatic amino-acid metabolism

0-20

E71.0

Maple-syrup-urine disease

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

E72.89

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 congenital 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 unsp 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

Md. Code Regs. 10.09.69.17

Regulations .17 adopted as an emergency provision effective November 8, 1996 (23:25 Md. R. 1730)
Regulations .17 adopted effective March 10, 1997 (24:5 Md. R. 408)
Regulations .17 repealed and new
Regulations .17 adopted effective February 2, 2004 (31:2 Md. R. 84)
Regulation .17 amended effective November 5, 2007 (34:22 Md. R. 1977); June 30, 2008 (35:13 Md. R. 1180); October 5, 2009 (36:20 Md. R. 1528); December 27, 2010 (37:26 Md. R. 1787); December 24, 2012 (39:25 Md. R. 1613)
Regulation .17 amended effective 42:21 Md. R. 1301, eff.10/26/2015; recodified from .16 effective 45:13 Md. R. 665, eff. 7/2/2018; amended effective 46:10 Md. R. 485, eff. 5/20/2019; amended effective 49:23 Md. R. 995, eff. 11/14/2022; amended effective 50:23 Md. R. 1004, eff. 11/27/2023