720817008: Craniosynostosis Boston type (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type

\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\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type

\Skull finding\Disorder of skull\Craniosynostosis Boston type

\Disorder of head\Disorder of skull\Craniosynostosis Boston type
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Craniosynostosis Boston type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Craniosynostosis Boston type
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis Boston type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Craniosynostosis Boston type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Craniosynostosis Boston type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Craniosynostosis Boston type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Craniosynostosis Boston type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Disorder of head\Disorder of skull\Craniosynostosis Boston type
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Developmental disorder\Developmental hereditary disorder\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Craniosynostosis Boston type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Craniosynostosis Boston type

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

Descriptions:

Id Description Lang Type Status Case? Module

3322169011 Craniosynostosis Boston type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3322170012 Craniosynostosis Boston type en Synonym Active Initial character case insensitive SNOMED CT core

3322171011 Craniosynostosis Warman type en Synonym Active Initial character case insensitive SNOMED CT core

3322172016 Warman Mulliken Hayward syndrome en Synonym Active Case sensitive SNOMED CT core

3322173014 A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Craniosynostosis Boston type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Craniosynostosis Boston type	Finding site	Limb structure	true	Inferred relationship	Some	2
Craniosynostosis Boston type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Craniosynostosis Boston type	Occurrence	Congenital	true	Inferred relationship	Some	2
Craniosynostosis Boston type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Craniosynostosis Boston type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Craniosynostosis Boston type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Craniosynostosis Boston type	Occurrence	Congenital	true	Inferred relationship	Some	3
Craniosynostosis Boston type	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Craniosynostosis Boston type	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	3
Craniosynostosis Boston type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	4
Craniosynostosis Boston type	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	3
Craniosynostosis Boston type	Is a	Disorder of skull	true	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Craniosynostosis Boston type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Craniosynostosis Boston type	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Craniosynostosis Boston type	Occurrence	Congenital	true	Inferred relationship	Some	4
Craniosynostosis Boston type	Occurrence	Congenital	false	Inferred relationship	Some	5
Craniosynostosis Boston type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Craniosynostosis Boston type	Occurrence	Congenital	false	Inferred relationship	Some	6
Craniosynostosis Boston type	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	4
Craniosynostosis Boston type	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	4
Craniosynostosis Boston type	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Craniosynostosis Boston type	Finding site	Face structure	false	Inferred relationship	Some	5
Craniosynostosis Boston type	Finding site	Limb structure	false	Inferred relationship	Some	6
Craniosynostosis Boston type	Finding site	Face structure	true	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
3322169011	Craniosynostosis Boston type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3322170012	Craniosynostosis Boston type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322171011	Craniosynostosis Warman type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322172016	Warman Mulliken Hayward syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3322173014	A form of syndromic craniosynostosis with characteristics of highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies has also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.	en	Definition	Active	Case sensitive	SNOMED CT core