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370999003: Primary hypogonadism (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1196295012 Primary hypogonadism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1209713018 Primary hypogonadism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1228893011 Hypergonadotropic hypogonadism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5235601000241118 hypogonadisme primaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


30 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hypogonadism (disorder) Is a Hypogonadism true Inferred relationship Some
Primary hypogonadism (disorder) Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Primary hypogonadism (disorder) Has definitional manifestation Decreased hormone secretion false Inferred relationship Some
Primary hypogonadism (disorder) Finding site Gonadal endocrine structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Primary ovarian failure Is a True Primary hypogonadism (disorder) Inferred relationship Some
Primary testicular failure (disorder) Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare, genetic, syndromic intellectual disability characterised by developmental delay, mild to moderate intellectual disability, low birth weight, moderate to severe short stature, microcephaly and variable hypergonadotropic hypogonadism. Mild facial dysmorphism include upslanted palpebral fissures and prominent nasal bridge. Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Mullerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia. Is a True Primary hypogonadism (disorder) Inferred relationship Some
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. Is a True Primary hypogonadism (disorder) Inferred relationship Some
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a True Primary hypogonadism (disorder) Inferred relationship Some
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990. Is a True Primary hypogonadism (disorder) Inferred relationship Some
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 Primary hypogonadism (disorder) Inferred relationship Some
Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). Is a True Primary hypogonadism (disorder) Inferred relationship Some
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. Is a True Primary hypogonadism (disorder) Inferred relationship Some
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Is a True Primary hypogonadism (disorder) Inferred relationship Some

Reference Sets

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