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719408007: Lethal omphalocele with cleft palate 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
3316242018 Lethal omphalocele with cleft palate syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316243011 Lethal omphalocele with cleft palate syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316244017 Czeizel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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