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

719456001: Cleft lip and cleft palate with intestinal malrotation and cardiopathy 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
3316430013 McPherson Clemens syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316436019 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316437011 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402124011 A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402125012 A rare multiple congenital anomaly syndrome characterised by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316430013 McPherson Clemens syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316436019 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316436019 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316437011 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3316437011 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316433010 A multiple congenital anomaly syndrome described in 5 patients to date. Characteristics include flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects, which were lethal in 3 of the 5 patients. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402124011 A rare multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402125012 A rare multiple congenital anomaly syndrome characterised by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3417271001000111 Lippen-Kiefer-Gaumenspalte-intestinale Malrotation-Kardiopathie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480281000241112 syndrome de fente labiopalatine malrotation cardiopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480281000241112 syndrome de fente labiopalatine malrotation cardiopathie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3417271001000111 Lippen-Kiefer-Gaumenspalte-intestinale Malrotation-Kardiopathie-Syndrom 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
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Congenital heart disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Congenital malrotation of intestine (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Cleft palate with cleft lip true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Heart structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Lip structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Congenital malrotation false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Intestinal structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Heart structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Lip structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Palatal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Palatal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Congenital malrotation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Finding site Bone structure of head false Inferred relationship Existential restriction modifier (core metadata concept) 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start