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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter 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\MacDermot Winter syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\MacDermot Winter syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\MacDermot Winter syndrome
\Finding of head region\Congenital anomaly of frontal bone\MacDermot Winter syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter syndrome

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\MacDermot Winter syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\MacDermot Winter syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\MacDermot Winter syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\MacDermot Winter syndrome

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter 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\MacDermot Winter syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\MacDermot Winter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\MacDermot Winter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital anomaly of frontal bone\MacDermot Winter syndrome
\Musculoskeletal finding\Musculoskeletal disorder\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\MacDermot Winter syndrome

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

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

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

3304467011 Prominent glabella with microcephaly and hypogenitalism syndrome en Synonym Active Case insensitive SNOMED CT core

3304468018 MacDermot Winter syndrome en Synonym Active Case sensitive SNOMED CT core

3304469014 A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304466019	Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304467011	Prominent glabella with microcephaly and hypogenitalism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304468018	MacDermot Winter syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304469014	A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.	en	Definition	Active	Case sensitive	SNOMED CT core