Reproductive system hereditary disorder

Code	`363290007`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020131

575140003-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency disorder

73362100746,XX disorder of sex development with skeletal anomalies syndrome disorder

123734500246,XX ovarian dysgenesis, short stature syndrome disorder

123128100946,XY disorder of sex development due to isolated 17,20-lyase deficiency disorder

78309200546,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency disorder

78309100346,XY gonadal dysgenesis, motor and sensory neuropathy syndrome disorder

72504500446,XY partial gonadal dysgenesis disorder

12089330004H leucodystrophy disorder

720981000Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome disorder

770941005Alopecia, progressive neurological defect, endocrinopathy syndrome disorder

12313004Androgen resistance syndrome disorder

715984007Boucher Neuhäuser syndrome disorder

720851007Chondrodysplasia with disorder of sex development syndrome disorder

776204008Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome disorder

722378009Congenital cataract with deafness and hypogonadism syndrome disorder

1172594000Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome disorder

700150001Congenital leptin deficiency disorder

715429006Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome disorder

718714006Deafness and hypogonadism syndrome disorder

719451006Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome disorder

733050004Dysmorphism, short stature, deafness, disorder of sex development syndrome disorder

782917007Familial adrenal hypoplasia with absent pituitary luteinising hormone disorder

725295005Familial male-limited precocious puberty disorder

716744000Familial penile hypospadias disorder

1172637002Female infertility due to oocyte meiotic arrest disorder

770726004Female infertility due to zona pellucida defect disorder

725029001Frontonasal dysplasia with alopecia and genital anomaly syndrome disorder

773749003Genitopalatocardiac syndrome disorder

716090004Haspeslagh Fryns Muelenaere syndrome disorder

718220008Hereditary breast and ovarian cancer syndrome disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

783696009Hyperandrogenism due to cortisone reductase deficiency disorder

721233005Hypergonadotropic hypogonadism with cataract syndrome disorder

236796004Hypogonadism with prune belly syndrome disorder

733113002Hypogonadotropic hypogonadism retinitis pigmentosa syndrome disorder

721842008Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome disorder

773665006Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome disorder

764959000Intellectual disability, myopathy, short stature, endocrine defect syndrome disorder

50855007Juvenile haemochromatosis disorder

722027009Kallman syndrome with heart disease disorder

56212008Leydig cell agenesis disorder

721977007Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome disorder

1234831009MIRAGE syndrome disorder

715628009MORM syndrome disorder

716023007MacDermot Winter syndrome disorder

722459008Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome disorder

702407009McKusick Kaufman syndrome disorder

1220596009Microcephalic primordial dwarfism, insulin resistance syndrome disorder

733092009Microcephalus, hypergonadotropic hypogonadism, short stature syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

785722006Obesity due to leptin receptor gene deficiency disorder

81771002Opitz-Frias syndrome disorder

1156768008Ovarioleucodystrophy disorder

722202006Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome disorder

1260449002Polyendocrine polyneuropathy syndrome disorder

719275009Primary hypergonadotropic hypogonadism and partial alopecia syndrome disorder

230240004Progressive cerebellar ataxia with hypogonadism disorder

772225005RAB18 deficiency disorder

724001005Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome disorder

76520005Robinow syndrome disorder

734173003SCARF syndrome disorder

723720008SERKAL syndrome disorder

722002002Scholte syndrome disorder

722114007Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome disorder

700489002Sensorineural deafness and male infertility disorder

732958004Spastic paraplegia with precocious puberty syndrome disorder

726724005Splenogonadal fusion, limb defect, micrognathia syndrome disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

716334004Urban Rogers Meyer syndrome disorder

699275001WNT4 Mullerian aplasia and ovarian dysfunction disorder

816067005Woodhouse Sakati syndrome disorder

771510006X-linked central congenital hypothyroidism with late-onset testicular enlargement disorder

719013004X-linked intellectual disability Cilliers type disorder

718914002X-linked intellectual disability Van Esch type disorder

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

717632002X-linked lissencephaly with abnormal genitalia syndrome disorder

733605002XY type gonadal dysgenesis with associated anomalies syndrome disorder

Reproductive system hereditary disorder

Parents (2)

Children (77)