204044008: Aplasia of corpus callosum (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Head finding (finding)\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Head finding (finding)\Finding of head region\Hemianencephaly\Aplasia of corpus callosum
\Head finding (finding)\Finding of head region\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Central nervous system finding\Finding of brain\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Congenital malformation of corpus callosum\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital brain aplasia (disorder)\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Leukoencephalopathy\Congenital malformation of corpus callosum\Aplasia of corpus callosum

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Aplasia of corpus callosum	Is a	Congenital malformation of corpus callosum	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Finding site	Corpus callosum structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia of corpus callosum	Finding site	Structure of central nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Aplasia of corpus callosum	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Is a	Lesion of brain (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Associated morphology	Aplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Associated morphology	Aplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Finding site	Corpus callosum structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Is a	Leukoencephalopathy	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Is a	Hemianencephaly	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Is a	Congenital brain aplasia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Aplasia of corpus callosum	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Aplasia of corpus callosum	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Agenesis of corpus callosum	Is a	True	Aplasia of corpus callosum	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial agenesis of corpus callosum	Is a	True	Aplasia of corpus callosum	Inferred relationship	Existential restriction modifier (core metadata concept)
Aicardi's syndrome	Is a	True	Aplasia of corpus callosum	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare congenital genetic neurological disorder characterised by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.	Is a	True	Aplasia of corpus callosum	Inferred relationship	Existential restriction modifier (core metadata concept)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Is a	True	Aplasia of corpus callosum	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
312895015	Aplasia of corpus callosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589217018	Aplasia of corpus callosum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
312895015	Aplasia of corpus callosum	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
312895015	Aplasia of corpus callosum	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
589217018	Aplasia of corpus callosum (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
589217018	Aplasia of corpus callosum (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
276181000077111	aplasie du corps calleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
276181000077111	aplasie du corps calleux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module