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204739008: Congenital aganglionic megacolon (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
313953017 Aganglionic megacolon en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
313954011 Congenital aganglionic megacolon en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
313955012 Aganglionosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
313956013 HD - Hirschsprung's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
313957016 Hirschsprung's disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2841693019 Hirschsprung disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5197848014 Congenital aganglionic megacolon (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1873311000195115 megacolon agangliare congenito it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5621000172115 maladie de Hirschsprung fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
384961000274111 Morbus Hirschsprung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3442511001000112 Hirschsprung-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


14 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital aganglionic megacolon Is a Congenital anomaly of large intestine false Inferred relationship Some
Congenital aganglionic megacolon Is a Intestinal autonomic neuropathy false Inferred relationship Some
Congenital aganglionic megacolon Is a Disorder of colon (disorder) false Inferred relationship Some
Congenital aganglionic megacolon Occurrence Congenital false Inferred relationship Some
Congenital aganglionic megacolon Finding site Colon structure false Inferred relationship Some 1
Congenital aganglionic megacolon Finding site Autonomic nerve structure false Inferred relationship Some 3
Congenital aganglionic megacolon Finding site Parasympathetic nervous system structure false Inferred relationship Some
Congenital aganglionic megacolon Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital aganglionic megacolon Finding site Structure of large intestine (body structure) false Inferred relationship Some 1
Congenital aganglionic megacolon Is a Congenital malformation false Inferred relationship Some
Congenital aganglionic megacolon Associated morphology Congenital dilatation false Inferred relationship Some 1
Congenital aganglionic megacolon Occurrence Congenital false Inferred relationship Some
Congenital aganglionic megacolon Associated morphology hypertrophie congénitale false Inferred relationship Some 1
Congenital aganglionic megacolon Is a Congenital dilatation of intestinal tract true Inferred relationship Some
Congenital aganglionic megacolon Is a Congenital dilatation of colon false Inferred relationship Some
Congenital aganglionic megacolon Associated morphology Congenital dilatation false Inferred relationship Some 1
Congenital aganglionic megacolon Finding site Colon structure false Inferred relationship Some 1
Congenital aganglionic megacolon Associated morphology hypertrophie congénitale false Inferred relationship Some 1
Congenital aganglionic megacolon Is a Congenital anomaly of large intestine false Inferred relationship Some
Congenital aganglionic megacolon Occurrence Congenital true Inferred relationship Some 2
Congenital aganglionic megacolon Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital aganglionic megacolon Finding site Structure of large intestine (body structure) false Inferred relationship Some 2
Congenital aganglionic megacolon Is a Disorder of colon (disorder) false Inferred relationship Some
Congenital aganglionic megacolon Is a Dilatation of intestine false Inferred relationship Some
Congenital aganglionic megacolon Is a Aganglionosis of colon false Inferred relationship Some
Congenital aganglionic megacolon Is a Congenital dilatation of colon false Inferred relationship Some
Congenital aganglionic megacolon Occurrence Congenital false Inferred relationship Some 3
Congenital aganglionic megacolon Associated morphology Congenital dilatation false Inferred relationship Some 3
Congenital aganglionic megacolon Finding site Colon structure false Inferred relationship Some 3
Congenital aganglionic megacolon Occurrence Congenital true Inferred relationship Some 4
Congenital aganglionic megacolon Associated morphology hypertrophie congénitale false Inferred relationship Some 4
Congenital aganglionic megacolon Finding site Colon structure false Inferred relationship Some 4
Congenital aganglionic megacolon Is a Aganglionosis of large intestine (disorder) true Inferred relationship Some
Congenital aganglionic megacolon Occurrence Congenital true Inferred relationship Some 1
Congenital aganglionic megacolon Finding site Large intestine part true Inferred relationship Some 1
Congenital aganglionic megacolon Finding site Large intestine part true Inferred relationship Some 2
Congenital aganglionic megacolon Associated morphology Congenital dilatation false Inferred relationship Some 2
Congenital aganglionic megacolon Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Congenital aganglionic megacolon Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital aganglionic megacolon Associated morphology Hypertrophy true Inferred relationship Some 2
Congenital aganglionic megacolon Associated morphology Dilatation true Inferred relationship Some 1
Congenital aganglionic megacolon Is a Motility disorder of large intestine false Inferred relationship Some
Congenital aganglionic megacolon Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Congenital aganglionic megacolon Associated morphology Morphologically abnormal structure false Inferred relationship Some 3
Congenital aganglionic megacolon Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 4
Congenital aganglionic megacolon Is a Congenital anomaly of the peripheral nervous system false Inferred relationship Some
Congenital aganglionic megacolon Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Congenital aganglionic megacolon Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Congenital aganglionic megacolon Is a Dilatation of large intestine true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Long segment Hirschsprung's disease Is a True Congenital aganglionic megacolon Inferred relationship Some
Short segment Hirschsprung's disease Is a True Congenital aganglionic megacolon Inferred relationship Some
Total intestinal aganglionosis Is a True Congenital aganglionic megacolon Inferred relationship Some
Aganglionosis of Auerbach's plexus Is a True Congenital aganglionic megacolon Inferred relationship Some
Hirschsprung's disease NOS Is a False Congenital aganglionic megacolon Inferred relationship Some
Mowat-Wilson syndrome (disorder) Is a True Congenital aganglionic megacolon Inferred relationship Some
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Congenital aganglionic megacolon 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 aganglionic megacolon Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum). Is a True Congenital aganglionic megacolon 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 aganglionic megacolon 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 aganglionic megacolon 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 aganglionic megacolon Inferred relationship Some
Hirschsprung disease of rectosigmoid region (disorder) Is a True Congenital aganglionic megacolon Inferred relationship Some
Extensive aganglionosis Hirschsprung disease (disorder) Is a True Congenital aganglionic megacolon Inferred relationship Some
Soave endorectal pull-through operation for Hirschsprung's disease Has focus True Congenital aganglionic megacolon Inferred relationship Some 3

Reference Sets

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