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719833004: Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

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


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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