716023007: Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism 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\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism 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\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism 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\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism 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\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Finding of head region\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Prominent glabella with microcephaly and hypogenitalism syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\Prominent glabella with microcephaly and hypogenitalism syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3304466019 Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3304467011 Prominent glabella with microcephaly and hypogenitalism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304468018 MacDermot Winter syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Disorder of skull	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Gonadal dysgenesis	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Structure of glabella	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	3
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	3
Prominent glabella with microcephaly and hypogenitalism syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Prominent glabella with microcephaly and hypogenitalism syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Gonadal structure	false	Inferred relationship	Existential restriction modifier	4
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Gonadal structure	true	Inferred relationship	Existential restriction modifier	1
Prominent glabella with microcephaly and hypogenitalism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Structure of glabella	true	Inferred relationship	Existential restriction modifier	3
Prominent glabella with microcephaly and hypogenitalism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Prominent glabella with microcephaly and hypogenitalism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Prominent glabella with microcephaly and hypogenitalism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Prominent glabella with microcephaly and hypogenitalism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Prominent glabella with microcephaly and hypogenitalism syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Disorder of face	false	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Prominent glabella with microcephaly and hypogenitalism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Congenital anomaly of frontal bone	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Congenital anomaly of face	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Prominent glabella with microcephaly and hypogenitalism syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Prominent glabella with microcephaly and hypogenitalism syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	4
Prominent glabella with microcephaly and hypogenitalism syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3

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
3304466019	Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304467011	Prominent glabella with microcephaly and hypogenitalism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304468018	MacDermot Winter syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module