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719408007: Lethal omphalocele with cleft palate syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316242018 Lethal omphalocele with cleft palate syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3316243011 Lethal omphalocele with cleft palate syndrome en Synonym Active Case insensitive SNOMED CT core
3316244017 Czeizel syndrome en Synonym Active Case sensitive SNOMED CT core
3316245016 Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal omphalocele with cleft palate syndrome Associated morphology Hernia true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Finding site Structure of abdominopelvic viscus false Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome Occurrence Congenital true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Occurrence Congenital false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Pathological process Pathological developmental process false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Finding site Bone structure of head false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 4
Lethal omphalocele with cleft palate syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Finding site Intra-abdominopelvic structure true Inferred relationship Some 3
Lethal omphalocele with cleft palate syndrome Is a Congenital omphalocele true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a Cleft palate true Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Is a Digestive system hereditary disorder false Inferred relationship Some
Lethal omphalocele with cleft palate syndrome Associated morphology Hernia false Inferred relationship Some 6
Lethal omphalocele with cleft palate syndrome Associated morphology Hernial opening false Inferred relationship Some 7
Lethal omphalocele with cleft palate syndrome Associated morphology Hernial opening false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome Associated morphology Developmental abnormality false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome Occurrence Congenital false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome Finding site Abdominal wall structure false Inferred relationship Some 10
Lethal omphalocele with cleft palate syndrome Finding site Abdominopelvic cavity structure false Inferred relationship Some 6
Lethal omphalocele with cleft palate syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome Occurrence Congenital false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome Finding site Palatal structure false Inferred relationship Some 9
Lethal omphalocele with cleft palate syndrome Associated morphology Congenital protrusion false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome Associated morphology Hernia false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome Finding site Intestinal structure false Inferred relationship Some 11
Lethal omphalocele with cleft palate syndrome Finding site Abdominal wall structure false Inferred relationship Some 7
Lethal omphalocele with cleft palate syndrome Finding site Umbilical structure false Inferred relationship Some 8
Lethal omphalocele with cleft palate syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Associated morphology Hernial opening false Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Finding site Umbilical structure false Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome Occurrence Congenital true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome Finding site Palatal structure false Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome Occurrence Congenital true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Finding site Palatal structure true Inferred relationship Some 1
Lethal omphalocele with cleft palate syndrome Associated morphology Hernial opening true Inferred relationship Some 2
Lethal omphalocele with cleft palate syndrome Finding site Umbilical structure true Inferred relationship Some 2

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

Problem/Diagnosis reference set

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