201241000146105: syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij man (aandoening)

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)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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 male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of pelvic region of trunk (finding)\Male genitalia finding\Testicular finding\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Male genitalia finding\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Male genitalia finding\Testicular finding\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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 male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Reproductive system hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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 male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome

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

\Functional finding\Decline in functional status (finding)\Decreased hormone production\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome

\Endocrine finding\Decreased hormone production\Testicular hypofunction\Primary testicular failure (disorder)\Male 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 (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male 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 (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of pelvic region of trunk (disorder)\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of male reproductive system (disorder)\Disorder of male genital organ (disorder)\Disorder of testis\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Disorder of endocrine testis\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Congenital hypergonadotropic hypogonadism (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Primary hypogonadism (disorder)\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature 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\Male hypogonadism\Testicular hypofunction\Primary testicular failure (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\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)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)\Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT Netherlands NRC maintained module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

13510591000146110 Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510611000146115 Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510621000146113 Male Mikati Najjar Sahli syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510601000146117 syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij man nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510631000146110 Mikati-Najjar-Sahli-syndroom bij man nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510641000146119 syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte bij man (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13510651000146116 syndroom van Mikati-Najjar-Sahli bij man nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Primary testicular failure (disorder)	true	Inferred relationship	Some
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Is a	Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	true	Inferred relationship	Some
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Testicular endocrine structure	true	Inferred relationship	Some	5
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	3
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Interprets	Hormone production	true	Inferred relationship	Some	6
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	6
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Head structure	true	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Male microcephalus, hypergonadotropic hypogonadism, short stature syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set