1003380001: 6q16 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\...
• \Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \General finding of observation of patient\Body measurement finding\Weight finding\High body weight\Obese\Obesity\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Genetic disease\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Obesity\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6\Deletion of part of long arm of chromosome 6\6q16 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Deletion of part of chromosome 6\Deletion of part of long arm of chromosome 6\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6\Deletion of part of long arm of chromosome 6\6q16 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Deletion of part of chromosome 6\Deletion of part of long arm of chromosome 6\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Prader-Willi-like syndrome\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Prader-Willi-like syndrome\6q16 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4165359010	Prader-Willi-like syndrome due to microdeletion 6q16	en	Synonym	Active	Case sensitive	SNOMED CT core
4165360017	6q16 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4165361018	6q16 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4168117017	Obesity due to 6q16 deletion	en	Synonym	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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