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1003380001: 6q16 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of brain\Disorder of brain\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\Disorder of brain\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\Disorder of brain\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 disorder due to abnormality of chromosome number OR structure\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 disorder due to abnormality of chromosome number OR structure\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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\Disorder of brain\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\Disorder of brain\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 malformation\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 malformation\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 malformation\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 disorder due to abnormality of chromosome number OR structure\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 disorder due to abnormality of chromosome number OR structure\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 malformation\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 malformation\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 malformation\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, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4165359010 Prader-Willi-like syndrome due to microdeletion 6q16 en Synonym Active Entire term case sensitive SNOMED CT core module

4165360017 6q16 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

4165361018 6q16 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4168117017 Obesity due to 6q16 deletion en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
6q16 microdeletion syndrome	Interprets	Measured body weight	true	Inferred relationship	Existential restriction modifier	2
6q16 microdeletion syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	2
6q16 microdeletion syndrome	Is a	Deletion of part of long arm of chromosome 6	true	Inferred relationship	Existential restriction modifier
6q16 microdeletion syndrome	Is a	Prader-Willi-like syndrome	true	Inferred relationship	Existential restriction modifier
6q16 microdeletion syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier	3
6q16 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
6q16 microdeletion syndrome	Finding site	Chromosome pair 6	true	Inferred relationship	Existential restriction modifier	3
6q16 microdeletion syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	4
6q16 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
6q16 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
6q16 microdeletion syndrome	Finding site	Structure of pars distalis of pituitary	true	Inferred relationship	Existential restriction modifier	5
6q16 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
6q16 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
6q16 microdeletion syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	6
6q16 microdeletion syndrome	Finding site	Chromosome pair 6	true	Inferred relationship	Existential restriction modifier	6
6q16 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	6
6q16 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	7
6q16 microdeletion syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	7
6q16 microdeletion syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	7
6q16 microdeletion syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	7

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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