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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

82 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Reproductive system hereditary disorder est un(e) (attribut) Disorder of reproductive system true Inferred relationship Some
Reproductive system hereditary disorder est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Reproductive system hereditary disorder localisation d'une constatation (attribut) Structure of anatomical reproductive system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Leydig cell agenesis (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome est un(e) (attribut) 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) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hyperandrogenism due to cortisone reductase deficiency est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Obesity due to leptin receptor gene deficiency est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
syndrome d'insensibilité partielle aux androgènes est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Woodhouse Sakati syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Progressive cerebellar ataxia with hypogonadism est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Ovarioleukodystrophy est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Female infertility due to oocyte meiotic arrest est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Kallman syndrome with heart disease (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
4H leukodystrophy (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
46,XY disorder of sex development due to isolated 17,20-lyase deficiency (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Severe steroid 21-hydroxylase deficiency est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Transitory amino acid metabolic disorder est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Iodotyrosine deiodination defect est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant variant form of albumin est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Neonatal iminoglycinuria est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Maturity onset diabetes mellitus in young est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Familial adrenocortical hypoplasia est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Placental sulphatase deficiency est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hyperglycinaemia est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Hereditary nephrogenic diabetes insipidus est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Adrenoleukodystrophy est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Autosomal dominant excess of transthyretin est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Benign neonatal hyperaminoaciduria est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Hereditary vitamin D dependency syndrome est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Transient neonatal hypertyrosinemia est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Neonatal hyperhistidinemia est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Opitz-Frias syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, dominant form est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
WNT4 Mullerian aplasia and ovarian dysfunction est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadism with prune belly syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Familial hypospadias of penis (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
X-linked lissencephaly with abnormal genitalia syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hereditary breast and ovarian cancer syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
X-linked intellectual disability with precocious puberty and obesity syndrome (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Chondrodysplasia with disorder of sex development syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hydrocephalus with obesity and hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Hypergonadotropic hypogonadism with cataract syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
dysplasie olfactogénitale est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False Reproductive system hereditary disorder Inferred relationship Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
46,XY partial gonadal dysgenesis (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder) est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some
SCARF syndrome est un(e) (attribut) True Reproductive system hereditary disorder Inferred relationship Some

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