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363290007: Reproductive system hereditary disorder (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
482435019 Reproductive system hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755097012 Reproductive system hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5230361000241117 affection de l'appareil reproducteur, héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

88 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 (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Testicular tumor of adrenogenital syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome Is a False 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
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 hyperglycinemia 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
Adrenoleukodystrophy 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
Hereditary vitamin D dependency syndrome Is a False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hypertyrosinemia Is a False Reproductive system hereditary disorder Inferred relationship Some
Neonatal hyperhistidinemia 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
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa 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
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) 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
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial hypospadias of penis (disorder) 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 (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) 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 (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) Is a False Reproductive system hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) 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 (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) Is a False Reproductive system hereditary disorder Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) 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
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) 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
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
SCARF syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Reproductive system hereditary disorder Inferred relationship Some
Female infertility due to zona pellucida defect (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hereditary site-specific ovarian cancer syndrome (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) Is a True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) 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 luteinizing hormone (disorder) 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 cytochrome P450 family 11 subfamily A member 1 deficiency (disorder) 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 (disorder) 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
Ovarioleukodystrophy 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

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