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719456001: Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3316430013 McPherson Clemens syndrome en Synonym Active Case sensitive SNOMED CT core
3316436019 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3316437011 Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

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 Pathological process Pathological developmental process true Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital true Inferred relationship Some 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Palatal structure true Inferred relationship Some 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Intestinal structure true Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Congenital malrotation true Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Pathological process Pathological developmental process false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Bone structure of head false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Congenital heart disease true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Congenital malrotation of intestine true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Cleft palate with cleft lip true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Is a Digestive system hereditary disorder true Inferred relationship Some
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital true Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital false Inferred relationship Some 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Palatal structure false Inferred relationship Some 6
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital false Inferred relationship Some 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Structure of heart false Inferred relationship Some 5
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Congenital failure of fusion false Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Lip structure false Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Congenital malrotation false Inferred relationship Some 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Intestinal structure false Inferred relationship Some 7
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Structure of heart true Inferred relationship Some 4
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital true Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Occurrence Congenital true Inferred relationship Some 2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Lip structure true Inferred relationship Some 1
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Finding site Palatal structure false 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

Cardiovascular finding reference set

Problem/Diagnosis reference set

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