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721221000: Hirschsprung disease with deafness and polydactyly syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3324656012 Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324657015 Hirschsprung disease with deafness and polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324658013 Santos Mateus Leal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402642019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402643012 Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324656012 Hirschsprung disease with deafness and polydactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324657015 Hirschsprung disease with deafness and polydactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324658013 Santos Mateus Leal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3324659017 An extremely rare malformative association, described in only two siblings to date with characteristics of Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402642019 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402643012 Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3387241001000112 Hirschsprung-Krankheit - Polydaktylie - Innenohrtaubheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876221000172116 syndrome de maladie de Hirschsprung-polydactylie-surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912021000172110 syndrome de Santos-Mateus-Leal fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
876221000172116 syndrome de maladie de Hirschsprung-polydactylie-surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
912021000172110 syndrome de Santos-Mateus-Leal fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3387241001000112 Hirschsprung-Krankheit - Polydaktylie - Innenohrtaubheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with deafness and polydactyly syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital aganglionic megacolon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Polydactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Finding site Parasympathetic nervous system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Finding site Autonomic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with deafness and polydactyly syndrome Finding site Ear structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 8
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology hypertrophie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 9
Hirschsprung disease with deafness and polydactyly syndrome Is a Inherited autonomic nervous system disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital dilatation of colon (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 10
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with deafness and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Colon structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with deafness and polydactyly syndrome Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Hypertrophy true Inferred relationship Existential restriction modifier (core metadata concept) 2
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of auditory system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with deafness and polydactyly syndrome Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 6
Hirschsprung disease with deafness and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Congenital hearing disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Hirschsprung disease with deafness and polydactyly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease with deafness and polydactyly syndrome Finding site Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with deafness and polydactyly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with deafness and polydactyly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Hirschsprung disease with deafness and polydactyly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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