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721978002: Lymphedema, atrial septal defect, facial changes syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3330010016 Lymphedema, atrial septal defect, facial changes syndrome en Synonym Active Case insensitive SNOMED CT core
3330011017 Lymphoedema, atrial septal defect, facial changes syndrome en Synonym Active Case insensitive SNOMED CT core
3330012012 Irons Bianchi syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lymphoedema, atrial septal defect, facial changes syndrome Is a Congenital anomaly of lower limb true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Lymphoedema, atrial septal defect, facial changes syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Occurrence Congenital true Inferred relationship Some 2
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Interatrial septum structure true Inferred relationship Some 1
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Congenital septal defect true Inferred relationship Some 1
Lymphoedema, atrial septal defect, facial changes syndrome Occurrence Congenital true Inferred relationship Some 1
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Face structure true Inferred relationship Some 2
Lymphoedema, atrial septal defect, facial changes syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Lymphoedema, atrial septal defect, facial changes syndrome Is a Developmental hereditary disorder false Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Congenital septal defect of heart false Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Hereditary lymphoedema true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Lymphoedema of lower limb true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Congenital abnormality of atrial septum false Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Occurrence Congenital true Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Face structure false Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Congenital septal defect false Inferred relationship Some 4
Lymphoedema, atrial septal defect, facial changes syndrome Occurrence Congenital false Inferred relationship Some 4
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Interatrial septum structure false Inferred relationship Some 4
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Lymphatic oedema false Inferred relationship Some 5
Lymphoedema, atrial septal defect, facial changes syndrome Occurrence Congenital false Inferred relationship Some 5
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Structure of lower limb false Inferred relationship Some 5
Lymphoedema, atrial septal defect, facial changes syndrome Associated morphology Lymphatic oedema true Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Finding site Structure of lower limb true Inferred relationship Some 3
Lymphoedema, atrial septal defect, facial changes syndrome Is a Congenital abnormality of cardiac connection true Inferred relationship Some
Lymphoedema, atrial septal defect, facial changes syndrome Is a Congenital atrial septal defect true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

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