1388546002: Combined immunodeficiency due to T-box transcription factor 1 gene mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Developmental hereditary disorder\Combined immunodeficiency due to TBX1 mutation
• \Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Combined immunodeficiency due to TBX1 mutation
• \Disorder of immune function (disorder)\Immunodeficiency disorder\...
• \Primary immune deficiency disorder\Combined immunodeficiency disease\Combined immunodeficiency due to TBX1 mutation
• \Congenital immunodeficiency disease\Combined immunodeficiency due to TBX1 mutation
• \Fetal and/or neonatal disorder\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Combined immunodeficiency due to TBX1 mutation
• \Congenital immunodeficiency disease\Combined immunodeficiency due to TBX1 mutation
• \Developmental disorder\Developmental hereditary disorder\Combined immunodeficiency due to TBX1 mutation
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Combined immunodeficiency due to TBX1 mutation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
6154071018	Combined immunodeficiency due to T-box transcription factor 1 gene mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6154072013	Combined immunodeficiency due to TBX1 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6154073015	Combined immunodeficiency due to T-box transcription factor 1 gene mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6154075010	A rare, combined immunodeficiency characterized by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying TBX1 mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differ; not all patients with TBX1 mutations have congenital heart defect, hypocalcemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6154076011	A rare, combined immunodeficiency characterised by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying TBX1 mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differ; not all patients with TBX1 mutations have congenital heart defect, hypocalcaemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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

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