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362993009: Autosomal recessive severe combined immunodeficiency disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2006. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2914355014 Autosomal recessive severe combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914598012 Autosomal recessive severe combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5065843011 Autosomal recessive SCID (severe combined immunodeficiency disease) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482128017 Autosomal recessive SCID en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
754767018 Autosomal recessive SCID (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914355014 Autosomal recessive severe combined immunodeficiency disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914355014 Autosomal recessive severe combined immunodeficiency disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914598012 Autosomal recessive severe combined immunodeficiency disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914598012 Autosomal recessive severe combined immunodeficiency disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5065843011 Autosomal recessive SCID (severe combined immunodeficiency disease) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5642961000241115 syndrome SCID autosomique récessif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5642971000241111 déficit immunitaire combiné sévère autosomique récessif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5642961000241115 syndrome SCID autosomique récessif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5642971000241111 déficit immunitaire combiné sévère autosomique récessif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

25 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Hereditary disorder of immune system false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Severe combined immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive SCID (severe combined immunodeficiency disease) Finding site Body system structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive SCID (severe combined immunodeficiency disease) Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive SCID (severe combined immunodeficiency disease) Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive severe combined immunodeficiency Is a False Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Adenosine deaminase deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to DCLRE1C deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency with hypereosinophilia (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to CD3gamma deficiency (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Immunodeficiency by defective expression of human leukocyte antigen class 1 Is a False Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to partial RAG1 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to cytidine 5-prime triphosphate synthetase 1 deficiency (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
immunodéficience combinée sévère due à un déficit de recrutement par la caspase 11 Is a False Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to IKK2 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to LCK deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare type of severe combined immunodeficiency syndrome (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes) associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to LAT deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to interleukin 7 receptor deficiency (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Severe combined immunodeficiency due to CORO1A deficiency Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder) Is a True Autosomal recessive SCID (severe combined immunodeficiency disease) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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