720853005: Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cernunnos-XLF deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Combined immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Disorder of body system\Disorder of immune structure\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Autosomal recessive SCID (severe combined immunodeficiency disease)\Cernunnos-XLF deficiency
\Disease\Congenital disease\Congenital immunodeficiency disease\Severe combined immunodeficiency disease\Severe combined immunodeficiency with low T- and B-cell numbers\Cernunnos-XLF deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Cernunnos-XLF deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Cernunnos-XLF deficiency

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3322290014 Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3322291013 Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome en Synonym Active Case insensitive SNOMED CT core

3322292018 Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome en Synonym Active Case insensitive SNOMED CT core

3322293011 Cernunnos-XLF deficiency en Synonym Active Case sensitive SNOMED CT core

3322294017 Severe combined immunodeficiency due to Cernunnos protein deficiency en Synonym Active Initial character case insensitive SNOMED CT core

3322296015 NHEJ1 (non-homologous end joining factor) syndrome en Synonym Active Case sensitive SNOMED CT core

4611853016 A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cernunnos-XLF deficiency	Finding site	Structure of immune system	true	Inferred relationship	Some	2
Cernunnos-XLF deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Cernunnos-XLF deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Cernunnos-XLF deficiency	Finding site	Face structure	true	Inferred relationship	Some	1
Cernunnos-XLF deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Cernunnos-XLF deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Cernunnos-XLF deficiency	Pathological process	Abnormal immune process	true	Inferred relationship	Some	3
Cernunnos-XLF deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Cernunnos-XLF deficiency	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Cernunnos-XLF deficiency	Is a	Severe combined immunodeficiency with low T- and B-cell numbers	true	Inferred relationship	Some
Cernunnos-XLF deficiency	Is a	Autosomal recessive SCID (severe combined immunodeficiency disease)	true	Inferred relationship	Some
Cernunnos-XLF deficiency	Finding site	Structure of immune system	false	Inferred relationship	Some
Cernunnos-XLF deficiency	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Cernunnos-XLF deficiency	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Cernunnos-XLF deficiency	Occurrence	Congenital	false	Inferred relationship	Some	3
Cernunnos-XLF deficiency	Finding site	Face structure	false	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3322290014	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3322291013	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322292018	Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3322293011	Cernunnos-XLF deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
3322294017	Severe combined immunodeficiency due to Cernunnos protein deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3322296015	NHEJ1 (non-homologous end joining factor) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4611853016	A rare form of combined immunodeficiency with characteristics of microcephaly, growth retardation and T and B cell lymphopenia. Patients present in childhood with growth retardation, microcephaly, urogenital and bone malformations, dysmorphic features, including bird-like facial dysmorphism, and features of combined immunodeficiency. Some patients may also present with autoimmune cytopenia. This disease is caused by mutations in the NHEJ1 (or Cernunos) gene (2q35). The resulting defect of Cernunnos/XLF, a core protein of the non-homologous end-joining (NHEJ) pathway, affects the major mechanism of DNA double-strand break repair. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core