Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3318089019 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3318090011 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5402243016 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402244010 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3318089019 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3318089019 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3318090011 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3318090011 |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3318091010 |
This syndrome has characteristics of facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402243016 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402244010 |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by developmental delay, neuropathic visceral dysmotility (resulting in neurogenic megacystis and sometimes chronic intestinal pseudo-obstruction syndrome), intracerebral calcifications, and dysmorphic facial features (including broad forehead, downslanted palpebral fissures, strabismus, protruding and low-set ears, and retrognathia). Microcephaly and renal abnormalities have also been reported. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3452481001000116 |
Viszerale Neuropathie-Gehirnanomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3452481001000116 |
Viszerale Neuropathie-Gehirnanomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Familial visceral neuropathy |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Autosomal recessive hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Congenital degeneration of nervous system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Anomalies of cerebrum |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Developmental delay |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Autonomic nervous system structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Face structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Structure of Auerbach's plexus (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Congenital malformation of autonomic nervous system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Congenital anomaly of peripheral nerve |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Congenital anomaly of intestinal tract |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
dégénérescence |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Structure of Auerbach's plexus (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Congenital anomaly of cerebrum (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Associated morphology |
Degenerative abnormality (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) |
Finding site |
Structure of peripheral part of autonomic nervous system (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|