Autosomal recessive SCID (severe combined immunodeficiency disease)

Autosomal recessive severe combined immunodeficiency disease (disorder)

active

Code	`362993009`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20060131

Synonyms

Autosomal recessive severe combined immunodeficiency disease

Parents (2)

85995004Autosomal recessive hereditary disorder disorder
31323000Severe combined immunodeficiency disease disorder

Children (25)

44940001Adenosine deaminase deficiency disorder
1351209002Autosomal recessive T- B+ severe combined immunodeficiency due to CD3D mutation disorder
1351210007Autosomal recessive T- B+ severe combined immunodeficiency due to CD3E mutation disorder
1351211006Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation disorder
1351212004Autosomal recessive T- B+ severe combined immunodeficiency due to SLP76 mutation disorder
1229941002Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency disorder
1229940001Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to IL-7Ralpha deficiency disorder
1371275005Autosomal recessive severe combined immunodeficiency due to DNA POLD3 deficiency disorder
725135004Combined immunodeficiency due to CD3gamma deficiency disorder
716378008Combined immunodeficiency due to ZAP70 deficiency disorder
725290000Combined immunodeficiency due to partial RAG1 deficiency disorder
724361001Hepatic veno-occlusive disease with immunodeficiency syndrome disorder
724177005LIG4 syndrome disorder
721977007Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome disorder
722067005Omenn syndrome disorder
720345008Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome disorder
1229942009Severe combined immunodeficiency due to CORO1A deficiency disorder
763623001Severe combined immunodeficiency due to CTPS1 deficiency disorder
715982006Severe combined immunodeficiency due to DCLRE1C deficiency disorder
782751003Severe combined immunodeficiency due to IKK2 deficiency disorder
1179284005Severe combined immunodeficiency due to LAT deficiency disorder
783617001Severe combined immunodeficiency due to LCK deficiency disorder
720853005Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome disorder
789777007Short-limb skeletal dysplasia with severe combined immunodeficiency disorder
718107000T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency disorder