718573009: Achalasia microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Finding of oesophagus\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Viscus structure finding\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome

\Digestive system finding\Gastrointestinal tract finding\Finding of oesophagus\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Gastrointestinal tract finding\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Gastrointestinal tract finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Achalasia microcephaly syndrome

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Achalasia microcephaly syndrome

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

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Achalasia microcephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Achalasia microcephaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of gastrointestinal tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disorder of upper gastrointestinal tract\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of oesophagus\Oesophageal dysmotility\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of stomach\Achalasia of oesophagus\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Achalasia microcephaly syndrome
\Disease\Congenital disease\Congenital achalasia of oesophagus\Achalasia microcephaly syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Achalasia microcephaly syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Achalasia microcephaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Achalasia microcephaly syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Achalasia microcephaly syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3312806017 Achalasia microcephaly syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3312807014 Achalasia microcephaly syndrome en Synonym Active Case insensitive SNOMED CT core

3312808016 An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achalasia microcephaly syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
Achalasia microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Achalasia microcephaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Achalasia microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Achalasia microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Achalasia microcephaly syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Achalasia microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	4
Achalasia microcephaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Achalasia microcephaly syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Achalasia microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Achalasia microcephaly syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Achalasia microcephaly syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Achalasia microcephaly syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Achalasia microcephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Achalasia microcephaly syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Achalasia microcephaly syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Achalasia microcephaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Achalasia microcephaly syndrome	Is a	Congenital achalasia of oesophagus	true	Inferred relationship	Some
Achalasia microcephaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Achalasia microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Achalasia microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Achalasia microcephaly syndrome	Finding site	Cardio-oesophageal junction structure	true	Inferred relationship	Some	3
Achalasia microcephaly syndrome	Finding site	Oesophageal structure	false	Inferred relationship	Some	1
Achalasia microcephaly syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Achalasia microcephaly syndrome	Interprets	Motility	true	Inferred relationship	Some	1
Achalasia microcephaly 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

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312806017	Achalasia microcephaly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3312807014	Achalasia microcephaly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3312808016	An extremely rare genetic syndrome, reported in a few families to date with characteristics of the association of microcephaly, intellectual deficit and achalasia. Symptoms of achalasia include coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood.	en	Definition	Active	Case sensitive	SNOMED CT core