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720009004: Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3318848018 Intractable diarrhea with choanal atresia and eye anomaly syndrome en Synonym Active Case insensitive SNOMED CT core
3318849014 Intractable diarrhoea with choanal atresia and eye anomaly syndrome en Synonym Active Case insensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Epithelial dysplasia true Inferred relationship Some 1
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Some 3
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Is a Congenital anomaly of gastrointestinal tract true Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Congenital atresia true Inferred relationship Some 2
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Some 2
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Structure of choana true Inferred relationship Some 2
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital true Inferred relationship Some 1
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Gastrointestinal tract structure true Inferred relationship Some 1
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Eye structure true Inferred relationship Some 3
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Interprets Digestive system function false Inferred relationship Some 7
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Is a Chronic disease of respiratory system true Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Is a Congenital anomaly of eye true Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Is a Chronic diarrhoea of infants AND/OR young children true Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Is a Choanal atresia true Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Clinical course Chronic true Inferred relationship Some 6
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Has definitional manifestation Diarrhoea false Inferred relationship Some
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Some 5
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Epithelial dysplasia false Inferred relationship Some 6
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Some 6
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Gastrointestinal tract structure false Inferred relationship Some 6
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Occurrence Congenital false Inferred relationship Some 7
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Congenital atresia false Inferred relationship Some 7
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Structure of choana false Inferred relationship Some 7
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology Developmental abnormality false Inferred relationship Some 5
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Eye structure false Inferred relationship Some 5
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Interprets Bowel action true Inferred relationship Some 4
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Has interpretation Altered true Inferred relationship Some 4
Intractable diarrhoea with choanal atresia and eye anomaly syndrome Finding site Intestinal structure true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Queensland allied health assessment reference set

Clinical finding foundation reference set

Respiratory finding reference set

Problem/Diagnosis reference set

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