Reproductive system hereditary disorder   363290007

SNOMED CT code


SNOMED code363290007
nameReproductive system hereditary disorder
statusactive
date introduced2002-01-31
fully specified name(s)Reproductive system hereditary disorder (disorder)
synonymsReproductive system hereditary disorder
attributes - group1
Finding siteReproductive anatomical structure   245500007
parents
children
  • 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency   57514000
  • 46,XX disorder of sex development with skeletal anomalies syndrome   733621007
  • 46,XX ovarian dysgenesis, short stature syndrome   1237345002
  • 46,XY disorder of sex development due to isolated 17,20-lyase deficiency   1231281009
  • 46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency   783092005
  • 46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome   783091003
  • 46,XY partial gonadal dysgenesis   725045004
  • 4H leukodystrophy   1208933000
  • Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome   720981000
  • Alopecia, progressive neurological defect, endocrinopathy syndrome   770941005
  • Androgen resistance syndrome   12313004
  • Boucher Neuhäuser syndrome   715984007
  • Chondrodysplasia with disorder of sex development syndrome   720851007
  • Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome   776204008
  • Congenital cataract with deafness and hypogonadism syndrome   722378009
  • Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome   1172594000
  • Congenital leptin deficiency   700150001
  • Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome   715429006
  • Deafness and hypogonadism syndrome   718714006
  • Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome   719451006
  • Dysmorphism, short stature, deafness, disorder of sex development syndrome   733050004
  • Familial adrenal hypoplasia with absent pituitary luteinizing hormone   782917007
  • Familial male-limited precocious puberty   725295005
  • Familial penile hypospadias   716744000
  • Female infertility due to oocyte meiotic arrest   1172637002
  • Female infertility due to zona pellucida defect   770726004
  • Frontonasal dysplasia with alopecia and genital anomaly syndrome   725029001
  • Genitopalatocardiac syndrome   773749003
  • Haspeslagh Fryns Muelenaere syndrome   716090004
  • Hereditary breast and ovarian cancer syndrome   718220008
  • Hydrocephalus with obesity and hypogonadism syndrome   721231007
  • Hyperandrogenism due to cortisone reductase deficiency   783696009
  • Hypergonadotropic hypogonadism with cataract syndrome   721233005
  • Hypogonadism with prune belly syndrome   236796004
  • Hypogonadotropic hypogonadism retinitis pigmentosa syndrome   733113002
  • Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome   721842008
  • Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome   773665006
  • Intellectual disability, myopathy, short stature, endocrine defect syndrome   764959000
  • Kallman syndrome with heart disease   722027009
  • Leydig cell agenesis   56212008
  • Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome   721977007
  • MacDermot Winter syndrome   716023007
  • Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome   722459008
  • McKusick Kaufman syndrome   702407009
  • Microcephalic primordial dwarfism, insulin resistance syndrome   1220596009
  • Microcephalus, hypergonadotropic hypogonadism, short stature syndrome   733092009
  • MIRAGE syndrome   1234831009
  • MORM syndrome   715628009
  • Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome   724097003
  • Obesity due to leptin receptor gene deficiency   785722006
  • Opitz-Frias syndrome   81771002
  • Ovarioleukodystrophy   1156768008
  • Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome   722202006
  • Polyendocrine polyneuropathy syndrome   1260449002
  • Primary hypergonadotropic hypogonadism and partial alopecia syndrome   719275009
  • Progressive cerebellar ataxia with hypogonadism   230240004
  • RAB18 deficiency   772225005
  • Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome   724001005
  • Robinow syndrome   76520005
  • SCARF syndrome   734173003
  • Scholte syndrome   722002002
  • Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome   722114007
  • Sensorineural deafness and male infertility   700489002
  • SERKAL syndrome   723720008
  • Spastic paraplegia with precocious puberty syndrome   732958004
  • Splenogonadal fusion, limb defect, micrognathia syndrome   726724005
  • Syndromic X-linked intellectual disability type 7   719160009
  • Testicular tumor of adrenogenital syndrome   109864001  removed: 2006-07-31
  • Urban Rogers Meyer syndrome   716334004
  • WNT4 Mullerian aplasia and ovarian dysfunction   699275001
  • Woodhouse Sakati syndrome   816067005
  • X-linked central congenital hypothyroidism with late-onset testicular enlargement   771510006
  • X-linked intellectual disability Cilliers type   719013004
  • X-linked intellectual disability Van Esch type   718914002
  • X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome   765471005
  • X-linked lissencephaly with abnormal genitalia syndrome   717632002
  • XY type gonadal dysgenesis with associated anomalies syndrome   733605002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Disorder of reproductive system   362968007
            Reproductive system hereditary disorder   363290007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007

ancestors
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