FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5402098015 A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402099011 A rare multiple congenital anomalies/dysmorphic syndrome characterised by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316242018 Lethal omphalocele with cleft palate syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402098015 A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402099011 A rare multiple congenital anomalies/dysmorphic syndrome characterised by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3431351001000111 Omphalozele-Gaumenspalte-Syndrom, letales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909121000172115 syndrome de Czeizel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961721000172117 syndrome létal d'omphalocèle-fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
909121000172115 syndrome de Czeizel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
961721000172117 syndrome létal d'omphalocèle-fente palatine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431351001000111 Omphalozele-Gaumenspalte-Syndrom, letales de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Is a Cleft palate true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 8
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 10
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 10
Lethal omphalocele with cleft palate syndrome (disorder) Finding site paroi abdominale false Inferred relationship Existential restriction modifier (core metadata concept) 10
Lethal omphalocele with cleft palate syndrome (disorder) Finding site cavité abdominale false Inferred relationship Existential restriction modifier (core metadata concept) 6
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 9
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 8
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Congenital protrusion false Inferred relationship Existential restriction modifier (core metadata concept) 11
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 11
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Intestinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 11
Lethal omphalocele with cleft palate syndrome (disorder) Finding site paroi abdominale false Inferred relationship Existential restriction modifier (core metadata concept) 7
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Umbilical structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Umbilical structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Umbilical structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Structure of abdominopelvic viscus false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Organ within abdominopelvic cavity false Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal omphalocele with cleft palate syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal omphalocele with cleft palate syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal omphalocele with cleft palate syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal omphalocele with cleft palate syndrome (disorder) Finding site Intra-abdominopelvic structure true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start