715434005: Holoprosencephaly craniosynostosis syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Disorder of head (disorder)\Congenital anomaly of head\...

\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome (disorder)

\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome (disorder)

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3302612019	Holoprosencephaly craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302613012	Holoprosencephaly craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302614018	Camero Lituania Cohen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302615017	Genoa syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3861041000052116	syndrom med holoprosencefali och kraniosynostos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)