715434005: Holoprosencephaly craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome

\Disorder of head\Congenital anomaly of head\...

\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome

\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome

\Musculoskeletal finding\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of head\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3302612019 Holoprosencephaly craniosynostosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3302613012 Holoprosencephaly craniosynostosis syndrome en Synonym Active Case insensitive SNOMED CT core
3302614018 Camero Lituania Cohen syndrome en Synonym Active Case sensitive SNOMED CT core
3302615017 Genoa syndrome en Synonym Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holoprosencephaly craniosynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome	Associated morphology	Congenital premature fusion	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome	Is a	Holoprosencephaly sequence	true	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Some	2

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
3302612019	Holoprosencephaly craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302613012	Holoprosencephaly craniosynostosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3302614018	Camero Lituania Cohen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302615017	Genoa syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core