764959000: Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...
• \Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\...
• \Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\...
• \Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of embryonic structure (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\pathologie endocrinologique\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection musculaire\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\pathologie gonadique endocrine (trouble)\hypogonadisme\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Hypopituitarism\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\Limbic disorder (disorder)\Disorder of hypothalamus (disorder)\affection de l'hypophyse (trouble)\Disorder of anterior pituitary (disorder)\hypogonadisme hypogonadotrope (trouble)\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, myopathy, short stature, endocrine defect syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Intellectual disability, myopathy, short stature, endocrine defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3655775011	Chudley Rozdilsky syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655776012	Intellectual disability, myopathy, short stature, endocrine defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655777015	Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3655778013	A rare congenital myopathy syndrome characterised by nonprogressive myopathy (manifesting with mild facial and generalised weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3655779017	A rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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