715434005: Holoprosencephaly craniosynostosis syndrome (disorder)

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

\Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding (finding)\Joint finding\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\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)\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 (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Malformation sequence\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Holoprosencephaly sequence\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Holoprosencephaly craniosynostosis syndrome
\Disease\Developmental disorder (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 (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	Is a	Holoprosencephaly sequence	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly craniosynostosis syndrome	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly craniosynostosis syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly craniosynostosis syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Holoprosencephaly craniosynostosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Holoprosencephaly craniosynostosis syndrome	Finding site	Joint structure of suture of skull	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Holoprosencephaly craniosynostosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly craniosynostosis syndrome	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly craniosynostosis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly craniosynostosis syndrome	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Holoprosencephaly craniosynostosis syndrome	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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 (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
3302612019	Holoprosencephaly craniosynostosis syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
3394711001000114	Holoprosenzephalie-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265821000241119	syndrome d'holoprosencéphalie et craniosténose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265831000241117	syndrome de Gênes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265841000241110	syndrome d'holoprosencéphalie et craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265851000241113	syndrome de Camero-Lituania-Cohen	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265821000241119	syndrome d'holoprosencéphalie et craniosténose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265831000241117	syndrome de Gênes	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265841000241110	syndrome d'holoprosencéphalie et craniosynostose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6265851000241113	syndrome de Camero-Lituania-Cohen	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3394711001000114	Holoprosenzephalie-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module