715434005: Holoprosencephaly craniosynostosis syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)

\affection de la tête\Congenital anomaly of head\...

\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)

\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Lesion of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Musculoskeletal finding\Joint finding\Cranial suture finding\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Malformation sequence\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\holoprosencéphalie (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\Holoprosencephaly craniosynostosis syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\syndrome de craniosynostose (trouble)\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:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holoprosencephaly craniosynostosis syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome (disorder)	localisation d'une constatation (attribut)	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)	morphologie associée (attribut)	Congenital premature fusion	true	Inferred relationship	Some	1
Holoprosencephaly craniosynostosis syndrome (disorder)	est un(e) (attribut)	holoprosencéphalie (trouble)	true	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	est un(e) (attribut)	syndrome de craniosynostose (trouble)	true	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	localisation d'une constatation (attribut)	crâne (structure corporelle)	false	Inferred relationship	Some
Holoprosencephaly craniosynostosis syndrome (disorder)	morphologie associée (attribut)	Congenital premature fusion	false	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Holoprosencephaly craniosynostosis syndrome (disorder)	localisation d'une constatation (attribut)	Joint structure of suture of skull	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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