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721978002: Lymphedema, atrial septal defect, facial changes 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
3330009014 Lymphedema, atrial septal defect, facial changes syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330010016 Lymphedema, atrial septal defect, facial changes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330011017 Lymphoedema, atrial septal defect, facial changes syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330012012 Irons Bianchi syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330013019 This syndrome is characterized by congenital lymphedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330014013 This syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. 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
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Congenital anomaly of lower limb true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) septum interauriculaire (structure corporelle) true Inferred relationship Some 1
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) Congenital septal defect (morphologic abnormality) true Inferred relationship Some 1
Lymphedema, atrial septal defect, facial changes syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) face true Inferred relationship Some 2
Lymphedema, atrial septal defect, facial changes syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Congenital septal defect of heart (disorder) false Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) lymphœdème héréditaire true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Cardiovascular system hereditary disorder true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Lymphedema of lower extremity (disorder) true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Congenital abnormality of atrial septum (disorder) false Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) face false Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) Congenital septal defect (morphologic abnormality) false Inferred relationship Some 4
Lymphedema, atrial septal defect, facial changes syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) septum interauriculaire (structure corporelle) false Inferred relationship Some 4
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) Lymphatic oedema false Inferred relationship Some 5
Lymphedema, atrial septal defect, facial changes syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) membre inférieur false Inferred relationship Some 5
Lymphedema, atrial septal defect, facial changes syndrome (disorder) morphologie associée (attribut) Lymphatic oedema true Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) localisation d'une constatation (attribut) membre inférieur true Inferred relationship Some 3
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Congenital abnormality of cardiac connection true Inferred relationship Some
Lymphedema, atrial septal defect, facial changes syndrome (disorder) est un(e) (attribut) Congenital atrial septal defect (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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