719972004: Haddad syndrome (disorder)

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

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

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

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

\Finding related to sleep (finding)\Sleep disorder\Breathing-related sleep disorder\Central alveolar hypoventilation syndrome\CCHS - Congenital central hypoventilation (finding)\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Haddad syndrome (disorder)	Is a	Congenital aganglionic megacolon (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Haddad syndrome (disorder)	Is a	CCHS - Congenital central hypoventilation (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Haddad syndrome (disorder)	Finding site	Parasympathetic nervous system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Haddad syndrome (disorder)	Finding site	Autonomic nerve structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Haddad syndrome (disorder)	Associated morphology	hypertrophie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Haddad syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Haddad syndrome (disorder)	Finding site	Colon structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Haddad syndrome (disorder)	Is a	Congenital dilatation of colon (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Haddad syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Haddad syndrome (disorder)	Finding site	Colon structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Haddad syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Haddad syndrome (disorder)	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Haddad syndrome (disorder)	Finding site	Colon structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Haddad syndrome (disorder)	Finding site	Colon structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Haddad syndrome (disorder)	Associated morphology	Hypertrophy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Haddad syndrome (disorder)	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Haddad syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Haddad syndrome (disorder)	Finding site	Structure of peripheral part of autonomic nervous system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Haddad syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Haddad syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Haddad syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	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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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
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
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	Active	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
3445211001000118	Haddad-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
873771000172115	syndrome de Haddad	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994301000172111	maladie d'Ondine-Hirschsprung	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
873771000172115	syndrome de Haddad	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
994301000172111	maladie d'Ondine-Hirschsprung	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3445211001000118	Haddad-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module