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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
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


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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Congenital malformation of autonomic nervous system (disorder) true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Congenital anomaly of peripheral nerve true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Congenital anomaly of intestinal tract true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) Structure of Auerbach's plexus true Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 3
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Familial visceral neuropathy true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Congenital degeneration of nervous system true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) Anomalies of cerebrum false Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) est un(e) (attribut) retard de développement true Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) Autonomic nervous system structure false Inferred relationship Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 6
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) structure du cerveau false Inferred relationship Some 6
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) morphologie associée (attribut) dégénérescence false Inferred relationship Some 5
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) localisation d'une constatation (attribut) Structure of Auerbach's plexus false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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