Q99.89 OTHER SPECIFIED CHROMOSOME ABNORMALITIES

Synonyms

• 16p12.1p12.3 triplication syndrome
• 49,XXXYY syndrome
• Abnormal spermatogenesis
• Acute myeloid leukemia with CEBPA somatic mutations
• Acute myeloid leukemia with inv; RPN1-EVI1
• Acute myeloid leukemia with myelodysplasia-related changes
• Acute myeloid leukemia with NPM1 somatic mutation
• Additional sex chromosome
• Anomaly of chromosome pair
• Anomaly of chromosome X
• Anomaly of chromosome Y
• Anomaly of sex chromosome
• Ataxia-telangiectasia-like disorder
• Atypical Norrie disease due to monosomy Xp11.3
• Autosomal aneuploidy
• Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
• Autosomal dominant congenital fiber-type disproportion myopathy due to ACTA1 mutation
• Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation
• Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation
• Autosomal recessive congenital fiber-type disproportion myopathy due to ACTA1 mutation
• Autosomal recessive congenital fiber-type disproportion myopathy due to TPM3 mutation
• Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
• Biallelic RPE65 mutation associated retinal dystrophy
• Café au lait spots
• Catecholaminergic polymorphic ventricular tachycardia
• Catecholaminergic polymorphic ventricular tachycardia due to calsequestrin mutation
• Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
• Chimera
• CHMP2B-related frontotemporal dementia
• Chromosomal alterations of group A
• Chromosomal alterations of group B
• Chromosomal alterations of group C and X
• Chromosomal alterations of group D
• Chromosomal alterations of group E
• Chromosomal alterations of group F
• Chromosomal alterations of group G and Y
• Chromosome 18 syndromes and antibody deficiency
• Chromosome 22 abnormalities with hypogammaglobulinemia
• Chromosome Xq27.3q28 duplication syndrome
• Combined heterozygous low density lipoprotein receptor co-occurrent with low density lipoprotein receptor adaptor protein 1 mutations
• Combined immunodeficiency due to OX40 deficiency
• Congenital cleft larynx
• Congenital fiber-type disproportion myopathy due to ACTA1 mutation
• Congenital fiber-type disproportion myopathy due to ACTA1 mutation
• Congenital fiber-type disproportion myopathy due to MYH7 mutation
• Congenital fiber-type disproportion myopathy due to TPM3 mutation
• Congenital hypoplasia of adrenal gland
• Congenital hypothyroidism due to dual oxidase maturation factor 2
• Congenital hypothyroidism due to symporter mutation
• Congenital hypothyroidism due to thyroglobulin mutation
• Congenital hypothyroidism due to thyroid deiodinase mutation
• Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation
• Congenital leptin deficiency
• Cystic fibrosis due to heterozygous deltaF508 mutation
• Cystic fibrosis due to homozygous deltaF508 mutation
• Deficiency of DNA repair
• Deficiency of glycerol kinase
• Deletion of X-chromosome and hypogammaglobulinemia
• Disorder of glycerol metabolism
• DNA instability syndrome
• DNA repair
• Duplication of chromosome
• Emanuel syndrome
• Emberger syndrome
• Epigenetic disorder
• Extra unidentified structurally abnormal chromosome
• Familial cardiomyopathy
• Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
• Familial hypercholesterolemia
• Familial hypercholesterolemia
• Familial hypercholesterolemia - homozygous
• Familial hypercholesterolemia due to heterozygous LDL receptor mutation
• Familial hypercholesterolemia due to homozygous LDL receptor mutation
• Finding of spermatozoa morphology
• Genetic non-syndromic childhood obesity
• Group chromosomal alteration
• Gynandromorphism syndrome
• Hereditary disorder of musculoskeletal system
• Hereditary hemoglobinopathy due to globin chain mutation
• Hereditary retinal dystrophy primarily involving retinal pigment epithelium
• Heritable pulmonary arterial hypertension
• Heritable pulmonary arterial hypertension due to ALK1 or endoglin mutation
• Heterologous chimera
• Homologous chimera
• Hyperimmunoglobulin E syndrome
• Hypertension due to gain-of-function mutation in mineralocorticoid receptor
• Imprinting error
• Interleukin-1 receptor-associated kinase 4 deficiency
• Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome
• Isochromosomy Yp
• Isochromosomy Yq
• Isologous chimera
• Lissencephaly due to TUBA1A mutation
• Low density lipoprotein receptor adaptor protein 1 mutation
• Low density lipoprotein receptor mutation
• Lung disease, immunodeficiency, chromosome breakage syndrome
• Male infertility of genetic origin
• Male infertility of genetic origin
• Male infertility of genetic origin
• Male infertility with azoospermia due to single gene mutation
• Male infertility with oligozoospermia due to single gene mutation
• Male infertility with teratozoospermia due to single gene mutation
• Maternal imprinting error
• Maternal uniparental disomy of chromosome 1
• Maternal uniparental disomy of chromosome 11
• Maternal uniparental disomy of chromosome 13
• Maternal uniparental disomy of chromosome 14
• Maternal uniparental disomy of chromosome 15
• Maternal uniparental disomy of chromosome 16
• Maternal uniparental disomy of chromosome 2
• Maternal uniparental disomy of chromosome 20
• Maternal uniparental disomy of chromosome 21
• Maternal uniparental disomy of chromosome 22
• Maternal uniparental disomy of chromosome 4
• Maternal uniparental disomy of chromosome 6
• Maternal uniparental disomy of chromosome 7
• Maternal uniparental disomy of chromosome 9
• Maternal uniparental disomy of chromosome X
• MECP2 related disorder
• Megakaryoblastic acute myeloid leukemia with t
• Mendelian disorders
• Microduplication Xp11.22p11.23 syndrome
• Mosaic genome-wide paternal uniparental disomy
• Mosaic variegated aneuploidy syndrome
• Multiple malformation syndrome, moderate short stature, facial
• Oligozoospermia
• Oligozoospermia
• Opitz-Frias syndrome
• Partial chromosome Y deletion
• Partial tetrasomy of chromosome 9
• Paternal imprinting error
• Paternal uniparental disomy of chromosome 1
• Paternal uniparental disomy of chromosome 11
• Paternal uniparental disomy of chromosome 13
• Paternal uniparental disomy of chromosome 14
• Paternal uniparental disomy of chromosome 15
• Paternal uniparental disomy of chromosome 20
• Paternal uniparental disomy of chromosome 21
• Paternal uniparental disomy of chromosome 4
• Paternal uniparental disomy of chromosome 5
• Paternal uniparental disomy of chromosome 6
• Paternal uniparental disomy of chromosome 7
• Paternal uniparental disomy of chromosome X
• Pelizaeus Merzbacher like disease
• Pelizaeus Merzbacher like disease
• Pelizaeus Merzbacher like disease
• Pelizaeus Merzbacher like disease
• Pelizaeus Merzbacher like disease due to AIMP1 mutation
• Pelizaeus Merzbacher like disease due to GJC2 mutation
• Pelizaeus Merzbacher like disease due to HSPD1 mutation
• Pelizaeus Merzbacher like disease due to SLC16A2 mutation
• Penile hypospadias
• Poly Y syndrome
• Polygenic hereditary disorder
• Polymicrogyria due to TUBB2B mutation
• Recombinant chromosome 8 syndrome
• Retinal pigment epithelial dystrophy
• Sex chromosome aneuploidy
• Sex chromosome mosaicism
• Sex-linked hereditary disorder
• Susceptibility to respiratory infection associated with CD8alpha chain mutation
• Symptomatic form of Coffin-Lowry syndrome in female carrier
• Syndromic X-linked intellectual disability due to JARID1C mutation
• Teratozoospermia
• Tetrasomy 11q24.1
• Tetrasomy 12p syndrome
• Tetrasomy 15q
• Tetrasomy 18p
• Tetrasomy 21
• Tetrasomy 5p mosaicism
• Tetrasomy 5p syndrome
• Tetrasomy of short arm of chromosome 9
• Trinucleotide repeat disorder
• Unbalanced translocation and insertion
• Unbalanced translocation of chromosome
• Uniparental disomy
• Uniparental disomy of maternal origin
• Uniparental disomy of paternal origin
• Ventricular tachycardia, polymorphic
• X small rings
• X-linked hereditary disease
• Xp21 deletion syndrome
• Xp22.13p22.2 duplication syndrome
• Xq12-q13.3 duplication syndrome
• Xq25 microduplication syndrome

Diagnostic Related Group(s)

The code Q99.89 is grouped in the following Diagnostic Related Group(s) MS-DRG V43.0

1. Other Male Reproductive System Diagnoses With Cc/mcc (729)
2. Other Male Reproductive System Diagnoses Without Cc/mcc (730)
3. Uterine And Adnexa Procedures For Non-malignancy With Cc/mcc (742)
4. Uterine And Adnexa Procedures For Non-malignancy Without Cc/mcc (743)
5. Menstrual And Other Female Reproductive System Disorders With Cc/mcc (760)
6. Menstrual And Other Female Reproductive System Disorders Without Cc/mcc (761)

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