719972004: syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung (aandoening)

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)

\Finding related to sleep\Sleep disorder\Breathing-related sleep disorder\Central alveolar hypoventilation syndrome\Congenital central hypoventilation\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	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	congenitale hypertrofie (afwijkende morfologie)	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	congenitale dilatatie (afwijkende morfologie)	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	congenitale dilatatie (afwijkende morfologie)	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 (morphologic abnormality)	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

This concept is not in any reference sets

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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
8366901000146110	Haddad-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8366911000146112	syndroom van Haddad	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8366921000146119	syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8366931000146117	syndroom van congenitale centrale alveolaire hypoventilatie met ziekte van Hirschsprung	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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