725030006: Familial scaphocephaly syndrome McGillivray type (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type

\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type

\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type

\Musculoskeletal finding\Bone finding\Skull finding\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial scaphocephaly syndrome McGillivray type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Familial scaphocephaly syndrome McGillivray type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of head\Disorder of skull\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Developmental hereditary disorder\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Congenital abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Simple craniosynostosis\Scaphocephaly\Familial scaphocephaly syndrome McGillivray type
\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 abnormality of skull shape\Familial scaphocephaly syndrome McGillivray type
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of bone and joint\Familial scaphocephaly syndrome McGillivray type

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

Descriptions:

Id Description Lang Type Status Case? Module

3437059016 Familial scaphocephaly syndrome McGillivray type (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

3437060014 Familial scaphocephaly syndrome McGillivray type en Synonym Active Initial character case insensitive SNOMED CT core

3437061013 Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3437062018 A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial scaphocephaly syndrome McGillivray type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Familial scaphocephaly syndrome McGillivray type	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial scaphocephaly syndrome McGillivray type	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type	Finding site	Structure of sagittal suture of skull	true	Inferred relationship	Some	1
Familial scaphocephaly syndrome McGillivray type	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Familial scaphocephaly syndrome McGillivray type	Associated morphology	Abnormal shape	true	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Congenital anomaly of bone and joint	true	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Scaphocephaly	false	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Craniosynostosis syndrome	false	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type	Occurrence	Congenital	false	Inferred relationship	Some	3
Familial scaphocephaly syndrome McGillivray type	Associated morphology	Congenital abnormal shape	false	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type	Finding site	Bone structure of cranium	true	Inferred relationship	Some	2
Familial scaphocephaly syndrome McGillivray type	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	3
Familial scaphocephaly syndrome McGillivray type	Finding site	Structure of sagittal suture of skull	false	Inferred relationship	Some	3
Familial scaphocephaly syndrome McGillivray type	Is a	Scaphocephaly	true	Inferred relationship	Some
Familial scaphocephaly syndrome McGillivray type	Is a	Congenital abnormality of skull shape	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
3437059016	Familial scaphocephaly syndrome McGillivray type (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3437060014	Familial scaphocephaly syndrome McGillivray type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3437061013	Scaphocephaly, macrocephaly, maxillary retrusion, intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3437062018	A rare craniosynostosis syndrome with characteristics of scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. It has been reported in 11 patients from a three-generation family. The patients had variable dysmorphic features including high forehead, marked midface hypoplasia with severe maxillary retrusion, relative or absolute prognathism, and malocclusion. More severely affected patients were male and had intellectual disability. Molecular analysis revealed a K526E mutation of the fibroblast growth factor receptor 2 gene FGFR2.	en	Definition	Active	Case sensitive	SNOMED CT core