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363290007: Reproductive system hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

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 Existential restriction modifier
Reproductive system hereditary disorder Is a Hereditary disorder by system true Inferred relationship Existential restriction modifier
Reproductive system hereditary disorder Finding site Structure of anatomical reproductive system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Testicular tumor of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Testicular tumor of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Severe steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Transitory amino acid metabolic disorder Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Iodotyrosine deiodination defect Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant variant form of albumin Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal iminoglycinuria Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Maturity onset diabetes mellitus in young Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Familial adrenocortical hypoplasia Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Placental sulfatase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Corticosterone 18-monooxygenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
17 alpha-Hydroxyprogesterone aldolase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Testosterone 17-beta-dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Transient neonatal hyperglycinemia Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Moderate steroid 21-hydroxylase deficiency Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Adrenoleukodystrophy Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant excess of transthyretin Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Benign neonatal hyperaminoaciduria Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary adrenal unresponsiveness to corticotropin Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary vitamin D dependency syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Transient neonatal hypertyrosinemia Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Neonatal hyperhistidinemia Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Opitz-Frias syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Pseudohypoaldosteronism, type 1, dominant form Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Pseudohypoaldosteronism, type 1, recessive form Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
WNT4 Müllerian aplasia and ovarian dysfunction Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Sensorineural deafness and male infertility Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadism with prune belly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Short stature with craniofacial anomalies and genital hypoplasia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability and short stature with hand contracture and genital anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Familial hypospadias of penis Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary breast and ovarian cancer syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Deafness and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Van Esch type Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability Cilliers type Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Syndromic X-linked intellectual disability type 7 Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability with precocious puberty and obesity syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia with disorder of sex development syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hydrocephalus with obesity and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypergonadotropic hypogonadism with cataract syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadism with anosmia Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with deafness and hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome Is a False Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
46,XY partial gonadal dysgenesis Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Familial male-limited precocious puberty Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Spastic paraplegia with precocious puberty syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Female infertility due to zona pellucida defect Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Alopecia, progressive neurological defect, endocrinopathy syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hereditary site-specific ovarian cancer syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
X-linked central congenital hypothyroidism with late-onset testicular enlargement Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Leydig cell agenesis Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Familial adrenal hypoplasia with absent pituitary luteinizing hormone Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
46,XY disorder of sex development, adrenal insufficiency due to cytochrome P450 family 11 subfamily A member 1 deficiency Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Hyperandrogenism due to cortisone reductase deficiency Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Obesity due to leptin receptor gene deficiency Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Partial androgen insensitivity syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Progressive cerebellar ataxia with hypogonadism Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Ovarioleukodystrophy Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier
Female infertility due to oocyte meiotic arrest Is a True Reproductive system hereditary disorder Inferred relationship Existential restriction modifier

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This concept is not in any reference sets

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