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721221000: syndrome de maladie de Hirschsprung-polydactylie-surdité (trouble)


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
757081000241118 syndrome de maladie de Hirschsprung-polydactylie-surdité (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
876221000172116 syndrome de maladie de Hirschsprung-polydactylie-surdité fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
912021000172110 syndrome de Santos-Mateus-Leal fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Colon structure true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Colon structure true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Digit structure true Inferred relationship Some 1
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) hypertrophie true Inferred relationship Some 2
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 3
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) structure du système auditif true Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome (disorder) interprète (attribut) Hearing, function (observable entity) true Inferred relationship Some 6
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Congenital hearing disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 7
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Hirschsprung's disease true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Hearing loss associated with syndrome true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Auditory system hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) polydactylie true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Parasympathetic nervous system structure false Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 4
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) oreille false Inferred relationship Some 5
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Colon structure false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 8
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) Congenital hypertrophy false Inferred relationship Some 9
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) est un(e) (attribut) Congenital dilatation of colon true Inferred relationship Some
Hirschsprung disease with deafness and polydactyly syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Hirschsprung disease with deafness and polydactyly syndrome (disorder) morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 10
Hirschsprung disease with deafness and polydactyly syndrome (disorder) localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 10

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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