719947004: Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Temtamy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome

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

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Temtamy syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Finding of head region\Finding of face\Facial bone finding\Disorder of facial bone\Congenital anomaly of face bones\Temtamy syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Temtamy syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Temtamy syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Temtamy syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Temtamy syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome

\Skull finding\Disorder of skull\Congenital anomaly of skull\Temtamy syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Temtamy syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Disorder of head\Disorder of skull\Congenital anomaly of skull\Temtamy syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Temtamy syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of face bones\Temtamy syndrome
\Disorder of head\Disorder of face\Disorder of facial bone\Congenital anomaly of face bones\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of face bones\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of skull\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital abnormality of skull and face bones\Congenital anomaly of face bones\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Temtamy syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Temtamy syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Temtamy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Coloboma of eye\Temtamy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Temtamy syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Coloboma of eye\Temtamy syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Temtamy syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Temtamy syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Temtamy syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3318554011 Temtamy syndrome en Synonym Active Case sensitive SNOMED CT core

3318555012 Temtamy Shalash syndrome en Synonym Active Case sensitive SNOMED CT core

3318559018 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3318560011 Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome en Synonym Active Case insensitive SNOMED CT core

3318558014 A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Temtamy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Temtamy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Temtamy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Temtamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Temtamy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Temtamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Temtamy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Temtamy syndrome	Finding site	Eye structure	true	Inferred relationship	Some	3
Temtamy syndrome	Finding site	Bone structure of face	true	Inferred relationship	Some	2
Temtamy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Temtamy syndrome	Finding site	Bone structure of cranium	true	Inferred relationship	Some	1
Temtamy syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	3
Temtamy syndrome	Associated morphology	Aplasia	true	Inferred relationship	Some	4
Temtamy syndrome	Is a	Partial agenesis of corpus callosum	false	Inferred relationship	Some
Temtamy syndrome	Finding site	Corpus callosum structure	true	Inferred relationship	Some	4
Temtamy syndrome	Is a	Aplasia of corpus callosum	true	Inferred relationship	Some
Temtamy syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Temtamy syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Temtamy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Temtamy syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Temtamy syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Temtamy syndrome	Is a	Agenesis of corpus callosum	false	Inferred relationship	Some
Temtamy syndrome	Is a	Congenital anomaly of face bones	true	Inferred relationship	Some
Temtamy syndrome	Is a	Congenital anomaly of skull	true	Inferred relationship	Some
Temtamy syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Temtamy syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Temtamy syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Temtamy syndrome	Is a	Coloboma of eye	true	Inferred relationship	Some
Temtamy syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Temtamy syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Temtamy syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Temtamy syndrome	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Temtamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Temtamy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Temtamy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Temtamy syndrome	Occurrence	Congenital	false	Inferred relationship	Some	7
Temtamy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	5
Temtamy syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	6
Temtamy syndrome	Finding site	Bone structure of cranium	false	Inferred relationship	Some	6
Temtamy syndrome	Associated morphology	Congenital failure of fusion	false	Inferred relationship	Some	7
Temtamy syndrome	Finding site	Eye structure	false	Inferred relationship	Some	7
Temtamy syndrome	Finding site	Bone structure of face	false	Inferred relationship	Some	5
Temtamy syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	4
Temtamy syndrome	Finding site	Entire corpus callosum	false	Inferred relationship	Some	4
Temtamy syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	1
Temtamy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Temtamy syndrome	Finding site	Eye structure	false	Inferred relationship	Some	1
Temtamy syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3318554011	Temtamy syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318555012	Temtamy Shalash syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318559018	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3318560011	Craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3318558014	A very rare congenital genetic neurological disorder with characteristics of agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders and variable craniofacial and skeletal abnormalities. Most reported families have multiple cases of Temtamy syndrome and almost all affected individuals are from consanguineous unions. The main clinical findings are dysmorphic facies, hypotonia, moderate to severe intellectual disability, intractable seizures and autistic features such as absent language or stereotypy. Motor and cognitive delay usually manifests in early childhood. The pathogenesis of Temtamy syndrome is not known. Various mutations (homozygous, missense, compound heterozygous) in the C12orf57 gene (12p13.31) have been reported in affected patients. Follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Case sensitive	SNOMED CT core