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720009004: Intractable diarrhea with choanal atresia and eye anomaly 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
3318686013 Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318848018 Intractable diarrhea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318849014 Intractable diarrhoea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402302018 Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402303011 Intractable diarrhoea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318686013 Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318686013 Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318848018 Intractable diarrhea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318848018 Intractable diarrhea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318849014 Intractable diarrhoea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3318849014 Intractable diarrhoea with choanal atresia and eye anomaly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3318850014 This syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318851013 This syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402302018 Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402303011 Intractable diarrhoea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
601601000274111 Syndrom mit therapieresistenter Diarrhoe, Choanalatresie und Augenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388751001000118 Therapieresistente Diarrhoe - Choanalatresie - Augenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480681000241110 diarrhée intraitable avec atrésie des choanes et syndrome d'anomalie oculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5480681000241110 diarrhée intraitable avec atrésie des choanes et syndrome d'anomalie oculaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601601000274111 Syndrom mit therapieresistenter Diarrhoe, Choanalatresie und Augenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3388751001000118 Therapieresistente Diarrhoe - Choanalatresie - Augenanomalien 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
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a Chronic disease of respiratory system true Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a Congenital anomaly of eye true Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a Chronic diarrhea of infants AND/OR young children (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a Choanal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Clinical course Chronic (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Intractable diarrhea with choanal atresia and eye anomaly syndrome Has definitional manifestation Diarrhea false Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Epithelial dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Gastrointestinal tract structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Structure of choana false Inferred relationship Existential restriction modifier (core metadata concept) 7
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Intractable diarrhea with choanal atresia and eye anomaly syndrome Interprets Bowel action false Inferred relationship Existential restriction modifier (core metadata concept) 4
Intractable diarrhea with choanal atresia and eye anomaly syndrome Has interpretation Altered (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Intestinal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Epithelial dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a Congenital anomaly of gastrointestinal tract true Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intractable diarrhea with choanal atresia and eye anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Intractable diarrhea with choanal atresia and eye anomaly syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Structure of choana true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intractable diarrhea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Gastrointestinal tract structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intractable diarrhea with choanal atresia and eye anomaly syndrome Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intractable diarrhea with choanal atresia and eye anomaly syndrome Interprets Digestive system function false Inferred relationship Existential restriction modifier (core metadata concept) 7
Intractable diarrhea with choanal atresia and eye anomaly syndrome Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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