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721095007: syndrome d'hernie diaphragmatique-anomalies des membres (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
3323481014 Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323482019 Diaphragmatic defect, limb deficiency, skull defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3323483012 Froster Huch syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
756971000241116 syndrome d'hernie diaphragmatique-anomalies des membres (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
932311000172111 syndrome de Froster-Huch fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
963101000172112 syndrome d'hernie diaphragmatique-anomalies des membres fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3323485017 Syndrome with the association of classical diaphragmatic hernia (Bochdalek type), severe lung hypoplasia and variable associated malformations. It has been reported only once in four successive fetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case) and an ossification defect of the skull (one case). 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
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) Structure of abdominopelvic viscus false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Defect of diaphragm true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) Structure of foramen of Bochdalek true Inferred relationship Some 1
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Defect true Inferred relationship Some 4
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon true Inferred relationship Some 3
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Congenital posterolateral diaphragmatic hernia (disorder) true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) structure de la cavité abdominopelvienne et/ou contenu de la cavité abdominopelvienne et/ou paroi abdominale antérieure (structure corporelle) true Inferred relationship Some 2
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of lung true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Congenital hernia of foramen of Bochdalek false Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Defect false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) false Inferred relationship Some 8
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Herniated structure (morphologic abnormality) false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) Structure of abdominopelvic viscus false Inferred relationship Some 9
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) diaphragme (structure corporelle) false Inferred relationship Some 5
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Hernial opening (morphologic abnormality) false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) Structure of foramen of Bochdalek false Inferred relationship Some 6
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) localisation d'une constatation (attribut) structure d'un poumon false Inferred relationship Some 7
Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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