719097002: Branchioskeletogenital syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of back\Finding of spinal region\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of vertebral column\Branchioskeletogenital syndrome
\Finding of back\Finding of spinal region\Disorder of spinal region\Disorder of cervical spine\Branchioskeletogenital syndrome
\Finding of back\Finding of spinal region\Vertebral column finding\Disorder of vertebral column\Branchioskeletogenital syndrome
\Finding of back\Finding of spinal region\Finding of cervical spine\Disorder of cervical spine\Branchioskeletogenital syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Branchioskeletogenital syndrome
\Finding of back\Disorder of back\Disorder of spinal region\Disorder of cervical spine\Branchioskeletogenital syndrome
\Finding of back\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Branchioskeletogenital syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital 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\Branchioskeletogenital syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome

\Finding of head and neck region\Head finding\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of cervical spine\Branchioskeletogenital syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Musculoskeletal disorder of the neck\Branchioskeletogenital syndrome
\Finding of head and neck region\Finding of neck region\Disorder of neck\Congenital anomaly of neck\Branchioskeletogenital syndrome
\Finding of head and neck region\Finding of neck region\Finding of cervical spine\Disorder of cervical spine\Branchioskeletogenital syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Branchioskeletogenital syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Branchioskeletogenital syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Branchioskeletogenital syndrome

\Musculoskeletal finding\Vertebral column finding\Disorder of vertebral column\Branchioskeletogenital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Branchioskeletogenital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Musculoskeletal disorder of the neck\Branchioskeletogenital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Branchioskeletogenital syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Branchioskeletogenital syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Musculoskeletal disorder of the neck\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of vertebral column\Branchioskeletogenital syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Disorder of neck\Disorder of cervical spine\Branchioskeletogenital syndrome
\Disease\Disorder of neck\Musculoskeletal disorder of the neck\Branchioskeletogenital syndrome
\Disease\Disorder of neck\Congenital anomaly of neck\Branchioskeletogenital syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of neck\Branchioskeletogenital syndrome
\Disease\Disorder of back\Disorder of spinal region\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of vertebral column\Branchioskeletogenital syndrome
\Disease\Disorder of back\Disorder of spinal region\Disorder of cervical spine\Branchioskeletogenital syndrome
\Disease\Disorder of back\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of back\Congenital anomaly of vertebral region of back\Congenital anomaly of spine\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Branchioskeletogenital syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of neck\Branchioskeletogenital syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3314975017 BSG syndrome en Synonym Active Case sensitive SNOMED CT core

3318036015 Branchio-skeleto-genital syndrome en Synonym Active Case insensitive SNOMED CT core

3318037012 Branchioskeletogenital syndrome en Synonym Active Case insensitive SNOMED CT core

3318038019 Branchioskeletogenital syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318039010 An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Branchioskeletogenital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Branchioskeletogenital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Branchioskeletogenital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Branchioskeletogenital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Branchioskeletogenital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Branchioskeletogenital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Branchioskeletogenital syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Finding site	Structure of cervical vertebral column	true	Inferred relationship	Some	2
Branchioskeletogenital syndrome	Finding site	Face structure	true	Inferred relationship	Some	1
Branchioskeletogenital syndrome	Is a	Congenital anomaly of musculoskeletal system	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Disorder of vertebral column	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Musculoskeletal disorder of the neck	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Branchioskeletogenital syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Branchioskeletogenital syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Branchioskeletogenital syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Branchioskeletogenital syndrome	Is a	Congenital anomaly of neck	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Congenital anomaly of spine	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Disorder of cervical spine	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Branchioskeletogenital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Branchioskeletogenital syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Branchioskeletogenital syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Branchioskeletogenital syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Branchioskeletogenital syndrome	Finding site	Structure of cervical vertebral column	false	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Finding site	Face structure	false	Inferred relationship	Some	4
Branchioskeletogenital syndrome	Finding site	Structure of genitourinary system	false	Inferred relationship	Some	5
Branchioskeletogenital syndrome	Finding site	Structure of genitourinary system	true	Inferred relationship	Some	3
Branchioskeletogenital syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

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
3314975017	BSG syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318036015	Branchio-skeleto-genital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318037012	Branchioskeletogenital syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318038019	Branchioskeletogenital syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318039010	An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family. The syndrome has characteristics of intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.	en	Definition	Active	Case sensitive	SNOMED CT core