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

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Congenital anomaly of gastrointestinal tract	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Congenital immunodeficiency disease	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Digestive system hereditary disorder	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Hereditary disorder of immune system	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Combined immunodeficiency disease	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Pathological process (attribute)	Abnormal immune process (qualifier value)	false	Inferred relationship	Some	2
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Occurrence	Congenital	false	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Finding site	Oesophagus, stomach, small intestine and large intestine together as a single entity.	false	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Associated morphology	Atresia (morphologic abnormality)	false	Inferred relationship	Some	1
Autosomal recessive combined immunodeficiency with multiple intestinal atresias	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)