24291004: Congenital dilatation of colon (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital dilatation of colon	Is a	Congenital functional disorders of the colon	false	Inferred relationship	Some
Congenital dilatation of colon	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Congenital dilatation of colon	Finding site	Colon structure	false	Inferred relationship	Some	1
Congenital dilatation of colon	Occurrence	Congenital	false	Inferred relationship	Some
Congenital dilatation of colon	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital dilatation of colon	Occurrence	Congenital	false	Inferred relationship	Some
Congenital dilatation of colon	Is a	Congenital dilatation of intestinal tract	true	Inferred relationship	Some
Congenital dilatation of colon	Is a	Disorder of colon (disorder)	true	Inferred relationship	Some
Congenital dilatation of colon	Is a	Congenital anomaly of large intestine	true	Inferred relationship	Some
Congenital dilatation of colon	Finding site	Colon structure	false	Inferred relationship	Some	1
Congenital dilatation of colon	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Congenital dilatation of colon	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital dilatation of colon	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	2
Congenital dilatation of colon	Finding site	Colon structure	false	Inferred relationship	Some	2
Congenital dilatation of colon	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Congenital dilatation of colon	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital dilatation of colon	Finding site	Colon structure	true	Inferred relationship	Some	1
Congenital dilatation of colon	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital dilatation of colon	Associated morphology	Dilatation	true	Inferred relationship	Some	1
Congenital dilatation of colon	Is a	Dilatation of large intestine	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
macrocolôn congénital non aganglionique	Is a	False	Congenital dilatation of colon	Inferred relationship	Some
Congenital aganglionic megacolon	Is a	False	Congenital dilatation of colon	Inferred relationship	Some
Congenital aganglionic megacolon	Is a	False	Congenital dilatation of colon	Inferred relationship	Some
Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease.	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out.	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Secondary megacolon - congenital	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
megacolôn congénital idiopathique	Is a	False	Congenital dilatation of colon	Inferred relationship	Some
Hirschsprung disease of rectosigmoid region (disorder)	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Long segment Hirschsprung's disease	Is a	True	Congenital dilatation of colon	Inferred relationship	Some
Short segment Hirschsprung's disease	Is a	True	Congenital dilatation of colon	Inferred relationship	Some

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
40771011	Congenital dilatation of colon	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
753911012	Congenital dilatation of colon (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3015239017	Congenital megacolon	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4468331000241110	dilatation congénitale du colon	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module