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

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

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

3901751000052111 syndrom med svårbehandlad diarré, koanalatresi och anomali i öga sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

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
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
3901751000052111	syndrom med svårbehandlad diarré, koanalatresi och anomali i öga	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)