733092009: Microcephalus, hypergonadotropic hypogonadism, short stature 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\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498733012 Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3498734018 Mikati Najjar Sahli syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3498735017 Microcephalus, hypergonadotropic hypogonadism, short stature syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Short stature disorder	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Primary hypogonadism	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier	4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Existential restriction modifier	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Existential restriction modifier	5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498733012	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3498734018	Mikati Najjar Sahli syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3498735017	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module