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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3302612019 Holoprosencephaly craniosynostosis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3302613012 Holoprosencephaly craniosynostosis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3302614018 Camero Lituania Cohen syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3302615017 Genoa syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3302612019	Holoprosencephaly craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3302613012	Holoprosencephaly craniosynostosis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3302614018	Camero Lituania Cohen syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3302615017	Genoa syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module