26595007: Congenital absence of part of brain (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital absence of the spinal cord and brain\Anencephalus\Congenital absence of part of brain
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital absence of part of brain	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Congenital absence of part of brain	Is a	Congenital absence of the spinal cord and brain	false	Inferred relationship	Some
Congenital absence of part of brain	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital absence of part of brain	Occurrence	Congenital	false	Inferred relationship	Some
Congenital absence of part of brain	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	1
Congenital absence of part of brain	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital absence of part of brain	Associated morphology	anomalie du développement	false	Inferred relationship	Some	1
Congenital absence of part of brain	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital absence of part of brain	Finding site	Brain part	true	Inferred relationship	Some	1
Congenital absence of part of brain	Is a	Congenital absence of the spinal cord and brain	false	Inferred relationship	Some
Congenital absence of part of brain	Finding site	Brain part	false	Inferred relationship	Some	1
Congenital absence of part of brain	Associated morphology	Congenital partial absence	false	Inferred relationship	Some	1
Congenital absence of part of brain	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital absence of part of brain	Is a	Congenital anomaly of nervous system of head/neck	false	Inferred relationship	Some
Congenital absence of part of brain	Is a	Congenital brain aplasia (disorder)	false	Inferred relationship	Some
Congenital absence of part of brain	Finding site	Brain part	false	Inferred relationship	Some	2
Congenital absence of part of brain	Associated morphology	Congenital absence	false	Inferred relationship	Some	2
Congenital absence of part of brain	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital absence of part of brain	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital absence of part of brain	Associated morphology	Aplasia	false	Inferred relationship	Some	1
Congenital absence of part of brain	Is a	Anencephalus	true	Inferred relationship	Some
Congenital absence of part of brain	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemicephaly	Is a	True	Congenital absence of part of brain	Inferred relationship	Some
Hemispheric cerebellar agenesis	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Hydranencephaly	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Agenesis of corpus callosum	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Hemispheric cerebral agenesis	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Partial absence of septum pellucidum (disorder)	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Partial agenesis of corpus callosum	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Agenesis of cerebrum	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Agenesis of cerebellum	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Congenital agenesis of brainstem nuclei	Is a	True	Congenital absence of part of brain	Inferred relationship	Some
Congenital absence of pituitary gland	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Absence of septum pellucidum	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Partial absence of septum pellucidum (disorder)	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Isolated arhinencephaly is a rare non-syndromic central nervous system malformation defined by the agenesis of the olfactory bulbs and tracts and characterized by complete congenital anosmia.	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
Aplasia of cerebellum	Is a	True	Congenital absence of part of brain	Inferred relationship	Some
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.	Is a	True	Congenital absence of part of brain	Inferred relationship	Some
Hemianencephaly	Is a	True	Congenital absence of part of brain	Inferred relationship	Some
Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy.	Is a	False	Congenital absence of part of brain	Inferred relationship	Some
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.	Is a	False	Congenital absence of part of brain	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
44527018	Congenital absence of part of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44528011	Agenesis of part of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44529015	Congenital aplasia of part of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
757045016	Congenital absence of part of brain (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4475841000241111	absence congénitale d'une partie du cerveau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module