1003380001: 6q16 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\Obesity due to genetic disease.\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Genetic disease\Obesity due to genetic disease.\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Obesity (disorder)\Obesity due to genetic disease.\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\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 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\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 (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.\6q16 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4165360017	6q16 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4165361018	6q16 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4168117017	Obesity due to 6q16 deletion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7692421000241114	syndrome de type Prader-Willi dû à une microdélétion 6q16	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7692431000241111	monosomie 6q16	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7692441000241118	syndrome de microdélétion 6q16	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3435921001000119	Mikrodeletionssyndrom 6q16	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start