719972004: Haddad syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Finding of large intestine\Observation of colon\Disorder of colon\Congenital dilatation of colon\Haddad syndrome
\Finding of large intestine\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Haddad syndrome
\Finding of large intestine\Disorder of large intestine\Disorder of colon\Congenital dilatation of colon\Haddad syndrome
\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Haddad syndrome
\Finding of large intestine\Disorder of large intestine\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome

\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Congenital anomaly of intestinal tract\Congenital dilatation of intestinal tract\Congenital dilatation of colon\Haddad syndrome
\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Congenital anomaly of intestinal tract\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome
\Intestinal disease\Disorder of large intestine\Motility disorder of large intestine\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Disorder of large intestine\Disorder of colon\Congenital dilatation of colon\Haddad syndrome
\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Aganglionosis of large intestine\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Disorder of large intestine\Congenital anomaly of large intestine\Congenital dilatation of colon\Haddad syndrome
\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Dilatation of intestine\Congenital dilatation of intestinal tract\Congenital dilatation of colon\Haddad syndrome
\Intestinal disease\Functional disorder of intestine\Motility disorder of intestine\Motility disorder of large intestine\Hirschsprung's disease\Haddad syndrome
\Intestinal disease\Intestinal autonomic neuropathy\Aganglionosis of large intestine\Hirschsprung's disease\Haddad syndrome

\General finding of observation of patient\Finding related to sleep\Sleep disorder\Breathing-related sleep disorder\Central alveolar hypoventilation syndrome\Congenital central hypoventilation\Haddad syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3318654015 Haddad syndrome en Synonym Active Case sensitive SNOMED CT core

3318655019 Congenital central alveolar hypoventilation with Hirschsprung disease syndrome en Synonym Active Initial character case insensitive SNOMED CT core

3318656018 Ondine Hirschsprung disease en Synonym Active Case sensitive SNOMED CT core

3318657010 Ondine Hirschsprung syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

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
3318653014	Haddad syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3318654015	Haddad syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3318655019	Congenital central alveolar hypoventilation with Hirschsprung disease syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3318656018	Ondine Hirschsprung disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3318657010	Ondine Hirschsprung syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core