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363290007: Reproductive system hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482435019 Reproductive system hereditary disorder en Synonym Active Case insensitive SNOMED CT core
755097012 Reproductive system hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

85 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Reproductive system hereditary disorder Is a Disorder of reproductive system true Inferred relationship Some
Reproductive system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Some
Reproductive system hereditary disorder Finding site Structure of anatomical reproductive system true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a True Reproductive system hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Leydig cell agenesis Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinising hormone Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY disorder of sex development, adrenal insufficiency due to CYP11A1 deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Obesity due to leptin receptor gene deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Partial androgen insensitivity syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Woodhouse Sakati syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism Is a True Reproductive system hereditary disorder Inferred relationship Some
Ovarioleucodystrophy Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Female infertility due to oocyte meiotic arrest Is a True Reproductive system hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease Is a True Reproductive system hereditary disorder Inferred relationship Some
4H leucodystrophy Is a True Reproductive system hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
MIRAGE syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XX ovarian dysgenesis, short stature syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital leptin deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Polyendocrine polyneuropathy syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Severe steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Transitory amino acid metabolic disorder Is a False Reproductive system hereditary disorder Inferred relationship Some
Iodotyrosine deiodination defect Is a False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant variant form of albumin Is a False Reproductive system hereditary disorder Inferred relationship Some
Neonatal iminoglycinuria Is a False Reproductive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young Is a False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumour of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Familial adrenocortical hypoplasia Is a False Reproductive system hereditary disorder Inferred relationship Some
Placental sulfatase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hyperglycinaemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type Is a False Reproductive system hereditary disorder Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a False Reproductive system hereditary disorder Inferred relationship Some
Adrenoleucodystrophy Is a False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant excess of transthyretin Is a False Reproductive system hereditary disorder Inferred relationship Some
Benign neonatal hyperaminoaciduria Is a False Reproductive system hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a False Reproductive system hereditary disorder Inferred relationship Some
De Sanctis-Cacchione syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Hereditary vitamin D dependency syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hypertyrosinaemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Neonatal hyperhistidinaemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Opitz-Frias syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form Is a False Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form Is a False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumour of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction Is a True Reproductive system hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility Is a True Reproductive system hereditary disorder Inferred relationship Some
McKusick Kaufman syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadism with prune belly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
MacDermot Winter syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
MORM syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Boucher Neuhäuser syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Haspeslagh Fryns Muelenaere syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Urban Rogers Meyer syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial penile hypospadias Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hereditary breast and ovarian cancer syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Deafness and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Van Esch type Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Cilliers type Is a True Reproductive system hereditary disorder Inferred relationship Some
Syndromic X-linked intellectual disability type 7 Is a True Reproductive system hereditary disorder Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadism with anosmia Is a False Reproductive system hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Osteosclerosis, ichthyosis, premature ovarian failure syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
SERKAL syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY partial gonadal dysgenesis Is a True Reproductive system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty Is a True Reproductive system hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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