1351644009: Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Digestive system finding (finding)\Gastrointestinal tract finding (finding)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Digestive system finding (finding)\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital immunodeficiency disease\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder (disorder)\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Digestive system hereditary disorder (disorder)\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Disorder of gastrointestinal tract (disorder)\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Disorder of body system\Disorder of digestive system (disorder)\Disorder of digestive system specific to fetus OR newborn\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of gastrointestinal tract\Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2024. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Congenital anomaly of gastrointestinal tract	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Digestive system hereditary disorder (disorder)	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Hereditary disorder of immune system	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Combined immunodeficiency disease	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Finding site	Gastrointestinal tract structure	true	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Associated morphology	Atresia (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5408223018	Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408224012	Autosomal recessive combined immunodeficiency with multiple intestinal atresias	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408225013	Combined immunodeficiency due to TTC7A mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5408233014	Multiple intestinal atresia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5408234015	Familial intestinal polyatresia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core