363290007: Reproductive system hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Reproductive system hereditary disorder (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of reproductive system\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Reproductive system hereditary disorder (disorder)	Is a	Disorder of reproductive system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reproductive system hereditary disorder (disorder)	Is a	Hereditary disorder by system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Reproductive system hereditary disorder (disorder)	Finding site	Reproductive anatomical structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Testicular tumor of adrenogenital syndrome	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Testicular tumor of adrenogenital syndrome	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe steroid 21-hydroxylase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Transitory amino acid metabolic disorder	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Iodotyrosine deiodination defect	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant variant form of albumin	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal iminoglycinuria	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial adrenocortical hypoplasia	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Placental sulphatase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Corticosterone 18-monooxygenase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
17 alpha-Hydroxyprogesterone aldolase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Testosterone 17-beta-dehydrogenase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Transient neonatal hyperglycinemia	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Steroid 21-monooxygenase deficiency, simple virilizing type	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
3 beta-Hydroxysteroid dehydrogenase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Moderate steroid 21-hydroxylase deficiency	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant excess of transthyretin	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Benign neonatal hyperaminoaciduria	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary adrenal unresponsiveness to corticotropin	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary vitamin D dependency syndrome	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Transient neonatal hypertyrosinemia	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal hyperhistidinaemia	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Opitz-Frias syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism, type 1, dominant form	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Pseudohypoaldosteronism, type 1, recessive form	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
WNT4 Mullerian aplasia and ovarian dysfunction	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
McKusick Kaufman syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypogonadism with prune belly syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
MORM syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Boucher Neuhäuser syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial hypospadias of penis (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A genetic condition characterised by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Deafness and hypogonadism syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability with precocious puberty and obesity syndrome	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Chondrodysplasia with disorder of sex development syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hydrocephalus with obesity and hypogonadism syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome (disorder)	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Scholte syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital cataract with deafness and hypogonadism syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
SERKAL syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY partial gonadal dysgenesis	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial male-limited precocious puberty	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Spastic paraplegia with precocious puberty syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysmorphism, short stature, deafness, disorder of sex development syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypogonadotropic hypogonadism retinitis pigmentosa syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XX disorder of sex development with skeletal anomalies syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
SCARF syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Female infertility due to zona pellucida defect (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ovarialkarzinom, lagespezifisches	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked central congenital hypothyroidism with late-onset testicular enlargement (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
RAB18 deficiency	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leydig cell agenesis	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial adrenal hypoplasia with absent pituitary luteinizing hormone (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
46,XY gonadal dysgenesis, motor and sensory neuropathy syndrome (disorder)	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperandrogenism due to cortisone reductase deficiency	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic obesity disease with characteristics of severe early-onset obesity associated with major hyperphagia and endocrine abnormalities resulting from leptin receptor deficiency. Caused by homozygous mutation in the gene encoding the leptin receptor (LEPR) on chromosome 1p31.	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial androgen insensitivity syndrome (disorder)	Is a	False	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive cerebellar ataxia with hypogonadism	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Ovarioleukodystrophy	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Female infertility due to oocyte meiotic arrest	Is a	True	Reproductive system hereditary disorder (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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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
482435019	Reproductive system hereditary disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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