Absent thumb - short stature - immune deficiency

Preferred Label : Absent thumb - short stature - immune deficiency;

ICD-11 definition : Absent thumb - short stature - immunodeficiency syndrome is characterised by thumb aplasia, short stature with skeletal abnormalities, and severe combined immunodeficiency.;

Details

Origin ID

2129443636;

Currated CISMeF NLP mapping
- Absent thumb-short stature-immunodeficiency syndrome [ORDO Disease]
- Thumb agenesis, short stature, and immunodeficiency [OMIM Phenotype]
- thumb agenesis, short stature, and immunodeficiency [MeSH concept]
- thumb agenesis, short stature, and immunodeficiency [MeSH Supplementary Concept]

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