733092009: Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)

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

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

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

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

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 (core metadata concept) SNOMED CT core

3498734018 Mikati Najjar Sahli syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3498735017 Microcephalus, hypergonadotropic hypogonadism, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5403735018 Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403736017 Mikati-Najjar-Sahli syndrome is characterised by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3498733012	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498734018	Mikati Najjar Sahli syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498735017	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5403735018	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403736017	Mikati-Najjar-Sahli syndrome is characterised by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core