719972004: Haddad syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Bowel finding\...

\Finding of large intestine\Observation of colon (finding)\Disorder of colon (disorder)\Congenital dilatation of colon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Dilatation of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Disorder of colon (disorder)\Congenital dilatation of colon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)

\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Dilatation of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Disorder of colon (disorder)\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Disorder of large intestine\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Dilatation of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Dilatation of large intestine\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital dilatation of colon\Haddad syndrome (disorder)
\Disorder of intestine\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Congenital aganglionic megacolon\Haddad syndrome (disorder)
\Disorder of intestine\Intestinal autonomic neuropathy\Aganglionosis of large intestine (disorder)\Congenital aganglionic megacolon\Haddad 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

3318653014 Haddad syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318654015 Haddad syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318655019 Congenital central alveolar hypoventilation with Hirschsprung disease syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318656018 Ondine Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318657010 Ondine Hirschsprung syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318658017 A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5402283012 Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Haddad syndrome (disorder)	Is a	Congenital aganglionic megacolon	true	Inferred relationship	Some
Haddad syndrome (disorder)	Is a	Congenital central hypoventilation	true	Inferred relationship	Some
Haddad syndrome (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Some
Haddad syndrome (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Some	3
Haddad syndrome (disorder)	Associated morphology	Congenital hypertrophy	false	Inferred relationship	Some	6
Haddad syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Haddad syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	6
Haddad syndrome (disorder)	Is a	Congenital dilatation of colon	true	Inferred relationship	Some
Haddad syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	7
Haddad syndrome (disorder)	Finding site	Colon structure	false	Inferred relationship	Some	7
Haddad syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	7
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Haddad syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Haddad syndrome (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	1
Haddad syndrome (disorder)	Finding site	Colon structure	true	Inferred relationship	Some	2
Haddad syndrome (disorder)	Associated morphology	Hypertrophy	true	Inferred relationship	Some	2
Haddad syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Haddad syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Haddad syndrome (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Some	4
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Haddad syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4

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
3318653014	Haddad syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318654015	Haddad syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318655019	Congenital central alveolar hypoventilation with Hirschsprung disease syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3318656018	Ondine Hirschsprung disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318657010	Ondine Hirschsprung syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3318658017	A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402283012	Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core