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722459008: syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3332220011 Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332226017 Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3332227014 Sohval Soffer syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
758781000241116 syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
883521000172117 syndrome d'hypogonadisme hypergonadotrope masculin-déficience intellectuelle-anomalies squelettiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934841000172113 syndrome de Sohval-Soffer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3332228016 This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) X-linked hereditary disease true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of endocrine system (disorder) true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Primary testicular failure (disorder) true Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) localisation d'une constatation (attribut) Testicular endocrine structure false Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est défini par la manifestation de (attribut) Decreased hormone production false Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 3
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) localisation d'une constatation (attribut) Testicular endocrine structure true Inferred relationship Some 1
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) interprète (attribut) Hormone production, function (observable entity) true Inferred relationship Some 2
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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