718573009: Achalasia microcephaly syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Finding of oesophagus\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Stomach finding\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital achalasia of esophagus\Achalasia microcephaly syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Achalasia microcephaly syndrome

\Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Stomach finding\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Achalasia microcephaly syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Achalasia microcephaly syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Achalasia microcephaly syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of gastrointestinal tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive tract\Disorder of upper digestive tract (disorder)\Disorder of upper gastrointestinal tract\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of esophagus (disorder)\Oesophageal dysmotility\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of stomach (disorder)\Achalasia of esophagus\Congenital achalasia of esophagus\Achalasia microcephaly syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Achalasia microcephaly syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Achalasia microcephaly syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Achalasia microcephaly syndrome

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

3312806017 Achalasia microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312807014 Achalasia microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5401768016 An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401769012 An extremely rare genetic syndrome characterised by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3312806017 Achalasia microcephaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312806017 Achalasia microcephaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3312807014 Achalasia microcephaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3312807014 Achalasia microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5401768016 An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5401769012 An extremely rare genetic syndrome characterised by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3415331001000113 Achalasie - Mikrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5976271000241119 syndrome d'achalasie et microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5976271000241119 syndrome d'achalasie et microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3415331001000113 Achalasie - Mikrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Achalasia microcephaly syndrome	Is a	microcéphalie	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Is a	retard mental	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Is a	Congenital achalasia of esophagus	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achalasia microcephaly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achalasia microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achalasia microcephaly syndrome	Finding site	Cardioesophageal junction structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Achalasia microcephaly syndrome	Finding site	Oesophageal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achalasia microcephaly syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achalasia microcephaly syndrome	Interprets	Motility (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Achalasia microcephaly syndrome	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Achalasia microcephaly syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achalasia microcephaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achalasia microcephaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Achalasia microcephaly syndrome	Finding site	Head structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Achalasia microcephaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Achalasia microcephaly syndrome	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Achalasia microcephaly syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Achalasia microcephaly syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Achalasia microcephaly syndrome	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Achalasia microcephaly syndrome	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3312806017	Achalasia microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312807014	Achalasia microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401768016	An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401769012	An extremely rare genetic syndrome characterised by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3312806017	Achalasia microcephaly syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312806017	Achalasia microcephaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3312807014	Achalasia microcephaly syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3312807014	Achalasia microcephaly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401768016	An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401769012	An extremely rare genetic syndrome characterised by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3415331001000113	Achalasie - Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5976271000241119	syndrome d'achalasie et microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5976271000241119	syndrome d'achalasie et microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415331001000113	Achalasie - Mikrozephalie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module