FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

717822006: syndrome de Goldberg-Shprintzen avec mégacôlon (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
3323624014 Goldberg Shprintzen megacolon syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323626011 Goldberg Shprintzen megacolon syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3323627019 Megacolon microcephaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
751601000241114 syndrome de Goldberg-Shprintzen avec mégacôlon (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
873811000172115 syndrome de Goldberg-Shprintzen avec mégacôlon fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
980721000172111 GOSHS - Goldberg-Shprintzen syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323628012 A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1. 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
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Large intestine part true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Palatal structure true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) hypertrophie true Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 4
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) structure osseuse de la tête (structure corporelle) false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Structure of peripheral part of autonomic nervous system (body structure) true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Congenital microcephaly (disorder) true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 3
Goldberg Shprintzen megacolon syndrome (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) microcéphalie false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) anomalie congénitale de l'encéphale false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) fente palatine true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Mental retardation false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Hirschsprung's disease true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Parasympathetic nervous system structure false Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Autonomic nerve structure true Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 9
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital hypertrophy false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital failure of fusion false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 11
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Inherited autonomic nervous system disorder (disorder) true Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) structure de l'encéphale false Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Large intestine part false Inferred relationship Some 8
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Large intestine part false Inferred relationship Some 10
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) localisation d'une constatation (attribut) Palatal structure false Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start