Diseases

Q829

Congenital malformation of skin, unspecified

Q830

Congenital absence of breast with absent nipple

Q831

Accessory breast

Q832

Absent nipple

Q833

Accessory nipple

Q838

Other congenital malformations of breast

Q839

Congenital malformation of breast, unspecified

Q840

Congenital alopecia

Q841

Congenital morphological disturbances of hair, not elsewhere classified

Q842

Other congenital malformations of hair

Q843

Anonychia

Q844

Congenital leukonychia

Q845

Enlarged and hypertrophic nails

Q846

Other congenital malformations of nails

Q848

Other specified congenital malformations of integument

Q849

Congenital malformation of integument, unspecified

Q8500

Neurofibromatosis, unspecified

Q8501

Neurofibromatosis, type 1

Q8502

Neurofibromatosis, type 2

Q8503

Schwannomatosis

Q8509

Other neurofibromatosis

Q851

Tuberous sclerosis

Q8581

PTEN hamartoma tumor syndrome

Q8582

Other Cowden syndrome

Q8583

Von Hippel-Lindau syndrome

B3881

Prostatic coccidioidomycosis

Q8589

Other phakomatoses, not elsewhere classified

Q859

Phakomatosis, unspecified

Q860

Fetal alcohol syndrome (dysmorphic)

Q861

Fetal hydantoin syndrome

Q862

Dysmorphism due to warfarin

Q868

Other congenital malformation syndromes due to known exogenous causes

Q870

Congenital malformation syndromes predominantly affecting facial appearance

Q8711

Prader-Willi syndrome

Q8719

Other congenital malformation syndromes predominantly associated with short stature

Q872

Congenital malformation syndromes predominantly involving limbs

Q873

Congenital malformation syndromes involving early overgrowth

Q8740

Marfan syndrome, unspecified

Q87410

Marfan syndrome with aortic dilation

Q87418

Marfan syndrome with other cardiovascular manifestations

Q8742

Marfan syndrome with ocular manifestations

Q8743

Marfan syndrome with skeletal manifestation

Q875

Other congenital malformation syndromes with other skeletal changes

Q8781

Alport syndrome

Q8782

Arterial tortuosity syndrome

Q8783

Bardet-Biedl syndrome

Q8784

Laurence-Moon syndrome

Q8785

MED13L syndrome

Q8786

Kleefstra syndrome

Q8787

Hao-Fountain Syndrome

Q8788

CTNNB1 syndrome

Q8789

Other specified congenital malformation syndromes, not elsewhere classified

Q8901

Asplenia (congenital)

Q8909

Congenital malformations of spleen

Q891

Congenital malformations of adrenal gland

Q892

Congenital malformations of other endocrine glands

Q893

Situs inversus

Q894

Conjoined twins

Q897

Multiple congenital malformations, not elsewhere classified

Q8981

Kabuki syndrome

Q8989

Other specified congenital malformations

Q899

Congenital malformation, unspecified

Q900

Trisomy 21, nonmosaicism (meiotic nondisjunction)

Q901

Trisomy 21, mosaicism (mitotic nondisjunction)

Q902

Trisomy 21, translocation

Q909

Down syndrome, unspecified

Q910

Trisomy 18, nonmosaicism (meiotic nondisjunction)

Q911

Trisomy 18, mosaicism (mitotic nondisjunction)

Q912

Trisomy 18, translocation

Q913

Trisomy 18, unspecified

Q914

Trisomy 13, nonmosaicism (meiotic nondisjunction)

Q915

Trisomy 13, mosaicism (mitotic nondisjunction)

Q916

Trisomy 13, translocation

Q917

Trisomy 13, unspecified

Q920

Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)

Q921

Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Q922

Partial trisomy

Q925

Duplications with other complex rearrangements

Q9261

Marker chromosomes in normal individual

Q9262

Marker chromosomes in abnormal individual

Q928

Other specified trisomies and partial trisomies of autosomes

Q929

Trisomy and partial trisomy of autosomes, unspecified

Q930

Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)

Q931

Whole chromosome monosomy, mosaicism (mitotic nondisjunction)

Q932

Chromosome replaced with ring, dicentric or isochromosome

Q933

Deletion of short arm of chromosome 4

Q934

Deletion of short arm of chromosome 5

Q9351

Angelman syndrome

Q9359

Other deletions of part of a chromosome

Q937

Deletions with other complex rearrangements

Q9381

Velo-cardio-facial syndrome

Q9382

Williams syndrome

Q9388

Other microdeletions

Q9389

Other deletions from the autosomes

Q939

Deletion from autosomes, unspecified

Q950

Balanced translocation and insertion in normal individual

Q951

Chromosome inversion in normal individual

Q952

Balanced autosomal rearrangement in abnormal individual

Q953

Balanced sex/autosomal rearrangement in abnormal individual

N399

Disorder of urinary system, unspecified